Volume 120; Issue 1-2

Molecular Genetics and Metabolism

Volume 120; Issue 1-2

1

Niemann-Pick disease, type C and Roscoe Brady

Patterson, Marc C., Walkley, Steven U.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 300 KB

english, 2017

2

Ten plus one challenges in diseases of the lysosomal system

Grabowski, Gregory A., Whitley, Chester

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 728 KB

english, 2017

3

The metabolism of glucocerebrosides — From 1965 to the present

Futerman, Anthony H., Platt, Frances M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.16 MB

english, 2017

4

WORLDSymposiumTM 2017 Program

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 138 KB

english, 2017

5

Mucopolysaccharidosis IVA and glycosaminoglycans

Khan, Shaukat, Alméciga-Díaz, Carlos J., Sawamoto, Kazuki, Mackenzie, William G., Theroux, Mary C., Pizarro, Christian, Mason, Robert W., Orii, Tadao, Tomatsu, Shunji

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 3.59 MB

english, 2017

6

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

El-Beshlawy, Amal, Tylki-Szymanska, Anna, Vellodi, Ashok, Belmatoug, Nadia, Grabowski, Gregory A., Kolodny, Edwin H., Batista, Julie L., Cox, Gerald F., Mistry, Pramod K.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

7

WORLDSymposium™ 2017 Introduction

Whitley, Chester B.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 575 KB

english, 2017

8

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

Desnick, Robert J., Barton, Norman W., Furbish, Scott, Grabowski, Gregory A., Karlsson, Stefan, Kolodny, Edwin H., Medin, Jeffrey A., Murray, Gary J., Mistry, Pramod K., Patterson, Marc C., Schiffmann

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

9

Types A and B Niemann-Pick disease

Schuchman, Edward H., Desnick, Robert J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 599 KB

english, 2017

10

Characterization of a chemically modified plant cell culture expressed human α-galactosidase-A enzyme for treatment of Fabry disease

Shaaltiel, Yoseph, Schiffmann, Raphael, Shen, Jin-Song, Azulay, Yaniv, Bartfeld, Dani, Nataf, Yakir, Tekoah, Yoram, Arvatz, Gil, Shulman, Avidor, Ruderfer, Ilya, Kizhner, Tali

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

11

MicroRNAs in Fabry disease: role as biomarkers and a possible pathophysiological pathway

Aguiar, Patricio, Costa, Marina C, Azevedo, Olga, Fiúza, Manuela, Marino, Jacira, Soares, José Luís Ducla, Hughes, Derralynn, Enguita, Francisco J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 103 KB

english, 2017

12

Understanding the metabolic consequences of human arylsulfatase A deficiency through a computational systems biology study

Almeciga-Diaz, Carlos J, Echeverri, Olga Y, Salazar-Barreto, Diego, Rodriguez-Lopez, Alexander, Gonzalez, Janneth, Barrera, Luis A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

13

Diurnal variation of Fabry biomarkers during enzyme replacement therapy

Auray-Blais, Christiane, Lavoie, Pamela, Abaoui, Mona, Boutin, Michel, Fortier, Carole, Arthus, Marie-Françoise, Bichet, Daniel G

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

14

Engineering tissue specific delivery of enzymes for lysosomal disease treatment

Baik, Andrew D, Schoenherr, Christopher J, Murphy, Andrew J, Economides, Aris N, Cygnar, Katherine D

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

15

The Fabry disease genotype-phenotype database (dbFGP): an international expert consortium

Desnick, Robert J, Chen, Rong, Srinivasan, Ram, Doheny, Dana O., Bishop, DavidF.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

16

Mitochondrial DNA haplogroups may influence Fabry disease phenotype

Mancuso, Michelangelo, Concolino, Daniela, Sechi, G. P, Feliciani, Claudio, Salviati, Alessandro, Siciliano, Gabriele, Bonuccelli, Ubaldo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

17

Plasma lyso-Gb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Nowak, Albina, Mechtler, Thomas P, Desnick, Robert J, Kasper, David C

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

18

Human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in a glycoengineered Escherichia coli strain

Almeciga-DIaz, Carlos J, Pimentel-Vera, Luisa N, Rodriguez-Lopez, Alexander, Espejo-Mojica, Angela, Ramirez, Aura M, Cardona, Carolina, Reyes, Luis H, DeLisa, Matthew P, Sanchez, Oscar F

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

19

A randomized open-label clinical trial of intrathecal recombinant human alpha-L-iduronidase for cognitive decline in mucopolysaccharidosis type I

Chen, Agnes, Nestrasil, Igor, Shapiro, Elsa, Eisengart, Julie, Maarup, Timothy, Polgreen, Lynda, Harmatz, Paul, Dickson, Patricia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

20

The contribution of mutant GCase to the accumulation and aggregation of alpha synuclein

Horowitz, Mia, Maor, Gali

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

21

Heat shock protein-based therapy for sphingolipidoses

Kirkegaard, Thomas, Gray, James, Priestman, David, Wallom, Kerri-Lee, Petersen, Nikolaj, Ingemann, Linda, Bornæs, Claus, Drndarski, Svetlana, Klein, Alexander, Jørgensen, Signe H, Atkins, Jennifer, Ol

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

22

Looking for diamonds in the rough: identifying differentially expressed modifier genes in mouse models for type 2 Gaucher disease

Grey, Richard, Trivdei, Niraj, Johnson, Kory R., Gonzalez, Ashley, Berhe, Bahafta, Elkahloun, Abdel G., Sidransky, Ellen, Tayebi, Nahid

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

23

Defective macrophage phagocytosis and particle clearance in Niemann-Pick disease type C1 mice

Newman, Stephanie K, Chen, Oscar CW, Morris, Lauren, Smith, David A, Platt, Nick, Platt, Frances M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

24

A retrospective review of the neurocognitive profile of patients with neuronopathic Gaucher disease in the UK: data from the GAUCHERITE study

Donald, Aimee, Bromley, Rebecca, Rust, Stewart, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

25

A Fabry genotype-phenotype working group initiative: classifying GLA mutations for male patients in the Fabry Registry

Germain, Dominique P., Oliveira, João P., Bichet, Daniel G., Yoo, Han-Wook, Gruskin, Daniel J., Hopkin, Robert J., Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R., Warnock, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

26

Investigation of total oxidant status, antioxidant status and thiol/disulphide homeostasis in mucopolysaccharidosis type III patients

Hişmi, Burcu Öztürk, Kumru, Burcu, Çelik, Hakim, Erel, Özcan

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

27

Stimulation of autophagy by genistein reduces levels of mutant huntingtin in cellular models of Huntington disease

Pierzynowska, Karolina, Mantej, Jagoda, Niedzialek, Natalia, Hac, Aleksandra, Wegrzyn, Grzegorz

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

28

Allosteric, non-inhibitory pharmacological chaperones for the treatment of lysosomal diseases

Roberts, Richard, Rodríguez-Pascau, Laura, García, Ana María, Cubero, Elena, Pizcueta, Pilar, Delgado, Aida, Revés, Marc, Pérez, Natalia, Ruano, Ana, Aymamí, Joan, Higaki, Katsumi, Grinberg, Daniel, V

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

29

Niemann-Pick disease type C: a diagnostic challenge

Al Menabawy, Nihal M, Mahmoud, Iman G, EL Khateeb, Nour M, Sobhy, Ahmed M, Zaki, Maha S, Gleeson, Joseph, Rolfs, Arndt, Selim, Laila A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

30

Identification of relevant clinical niches in rare inherited metabolic diseases: Niemann-Pick disease type C as a model

Hendriksz, Chris J., Kolb, Stefan A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

31

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

Shen, Jin-Song, Arning, Erland, West, Michael L, Day, Taniqua S, Cheng, Seng H, Schiffmann, Raphael, Bottiglieri, Teodoro

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

32

Assessment of functional mobility post haematopoietic cell transplant (HCT) in mucopolysaccharidosis type I using validated measures

Wood, Michelle, Davison, James E, Cleary, Maureen A, Eastwood, Deborah M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

33

Table of Contents

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 91 KB

english, 2017

34

Urinary glycosaminoglycan levels in a mucopolysaccharidosis type II pediatric population receiving idursulfase therapy: datafrom the Hunter Outcome Survey (HOS) for patients aged <18 months

Aleck, Kyrieckos A, Tylki-Szymańska, Anna, Ficicioglu, Can, Burton, Barbara K, Jego, Virginie, Guffon, Nathalie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

35

Lyso-SM-509 is an easy-measurable and sensitive biomarker for Niemann-Pick disease: a two year study

Cozma, Claudia, Kramp, Guido, Giese, Anne-Katrin, Zielke, Susanne, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

36

Home enzymatic therapy administration program for lysosomal diseases in Spain: first national experience

Giner-Galvañ, Vicente, Torras, Joan, Perpiñan, Javier, Torregrosa, Vicens, Martin, Maria Luisa, Mora, Angeles, Torra, Roser, Cano, Horacio, Fernandez, Esperanza, Lopez Dupla, Jesus M., Luaña, Armando,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

37

Neurological correction of mucopolysaccharidosis type IIIB mice by haematopoietic stem cell gene therapy

Bigger, Brian, Ellison, Stuart, Fil, Daniel, O'leary, Claire, McDermott, John, Senthivel, N., Langford-Smith, Alexander, Wilkinson, Fiona, Kan, S-h, Dickson, Patricia, Holley, Rebecca

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

38

Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis type II

Kubaski, Francyne, Suzuki, Yasuyuki, Yabe, Hiromasa, Mason, Robert W., Xie, Li, Onsten, Tor G.H., Leistner-Segal, Sandra, Giugliani, Roberto, Dũng, Vũ C., Ngoc, Can T.B., Ngoc, Can T.B., Yamaguchi, Se

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

39

Detection of early end-organ damage by endothelial dysfunction with reactive hyperemia-digital peripheral arterial tonometry in patients with Fabry disease

Yano, Shoji, Moseley, Kathryn, Azen, Colleen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

40

CRISPR/Cas9-directed genome editing of human MPS I fibroblasts

de Carvalho, Talita Giacomet, Schuh, Roselena, Pasqualim, Gabriela, Pellenz, Felipe Matheus, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

41

A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment

Muenzer, Joseph, Hendriksz, Christian J., Stein, Margot B., Fan, Zheng, Kearney, Shauna, Horton, Johan, Vijayaraghavan, Suresh, Santra, Saikat, Solanki, Guirish A., Pan, Luying, Alexanderian, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

42

Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil

Bravo-Villalta, Heydy V, Neto, Eurico C, Schulte, Jaqueline, Pereira, Jamile, Sampaio-Filho, Cláudio, Burin, Maira G, Bitencourt, Fernanda H, Sebastião, Fernanda M, Guidobono, Régis R, Brusius-Facchin

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

43

Six-plex MS/MS method to measure I2S, NAGLU, GALNS, ARSB, GUSB and TPP1 enzyme activities in dried blood spots

Cournoyer, Jason, Potier, Anna, Trometer, Joe, Schermer, Mack, Vranish, Alyssa, DiPerna, James, Liu, Yang, Yi, Fan, Chennamaneni, Naveen, Spacil, Zdenek, Kumar, Arun, Liao, Joyce, Gelb, Michael, Ronal

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

44

Maintenance of quality of life in adults with type 1 Gaucher disease previously stabilized on enzyme therapy who were switched to oral eliglustat: 4 year results of the ENCORE trial

Cox, Timothy M., Weinreb, Neal J., Drelichman, Guillermo, Lukina, Elena, Tayag, Regina, Gaemers, Sebastiaan J.M., Hou, Audrey W., Peterschmitt, M.Judith

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

45

Lipidomics for Gaucher and Fabry diseases

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

46

An algorithm to assess the need for CSF shunting in mucopolysaccharidosis patients

Dalla-Corte, Amauri, Souza, Carolina F.M., Vairo, Filippo, Vedolin, Leonardo M., Longo, Maria G., Anés, Maurício, Maeda, Fábio K., Federhen, Andressa, Rosa, Amanda T., Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

47

GAA deficiency in Pompe disease is alleviated by exon inclusion in iPS cell-derived skeletal muscle cells

Bergsma, Atze J, van der Wal, Erik, Pijnenburg, Joon M., van Gestel, Tom J.M., in 't Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pim Pijnappel,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

48

Presence of the mutation c.1-769G&gt/;C in the promoter region of the GLA gene could be responsible for the α-galactosidase-A deficiency in Fabry patients

Varela, Patricia, Gomes, Caio P, Marins, Maryana, Assis, Erica, D'Almeida, Vania, Martins, Ana Maria, Pesquero, João Bosco

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

49

Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease

Marcellus, Samantha A, Holida, Myrl D., Bernat, John A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

50

Prevalence of lysosomal diseases in the group of cardiac hypertrophy patients requiring cardiac surgery

Zaklyazminskaya, Elena, Polyak, Margarita, Blagova, Olga, Dzemeshkevich, Sergei

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

51

Screening of the Greek population for Fabry disease via pedigree analysis

Koulousios, Konstantinos, Andrikos, Emilios, Stylianou, Konstantinos, Papadopoulou, Dorothea, Katsinas, Christos, Tsivgoulis, Georgios, Germenis, Anastasios E.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

52

Diagnosis, management and follow up of mucopolysaccharidosis: a five year review from a single mid-level institute

Wang, Hua, Wierenga, Klaas

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

53

Dietary effects on glycosaminoglycan storage in MPS IIIB

Heldermon, Coy, McNally, Alexander, DeCosmo, Joseph, Ai, Lingbao

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

54

Successful bone marrow transplantation treatment for a 10-year-old patient with late onset Krabbe disease

Sanchez, Estrella Lizbeth Mellin, Feigenberg, Michal Inbar, Kronick, Jonathan, Mecija, Michelle

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

55

Haematopoietic stem cell transplantation alongside enzyme replacement therapy in infantile onset lysosomal acid lipase deficiency (LALD, Wolman disease)

Ghosh, Arunabha, Lum, Su Han, Jones, Simon, Wynn, Robert F.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

56

Losartan improves cardiovascular disease in mucopolysaccharidosis type I

Gonzalez, Esteban A., Poletto, Édina, Tavares, Angela M.V., Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

57

Epidemiology of mucopolysaccharidoses (MPS) in the United States: challenges and opportunities

Puckett, Yana, Bui, Eileen, Zelicoff, Alan, Montano, Adriana

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

58

Could it be something else? Patients with Gaucher disease, chronic pain, and fatigue found to also meet diagnostic criteria for another inherited condition, Ehlers-Danlos syndrome, hypermobility type

Bailey, Laurie, Andrew Burrow, T., Wehmeyer, Connie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

59

The patient experience of elosulfase alfa treatment for MPS IVA (Morquio syndrome type A): beyond traditional measures

Jarrett, James, Jain, Mohit, Roberts, Charlotte, Morrison, Alexandra

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

60

Ambroxol and bromhexine derivatives as pharmacological chaperones for mutant glucocerebrosidase

Lukas, Jan, Seemann, Susanne, Sharif, Muhammad, Zheng, Chaonan, Cimmaruta, Chiara, Braunstein, Hila, Pews-Davtyan, Anahit, Mieske, Elisabeth, Andreotti, Giuseppina, Cubellis, Maria V, Beller, Matthias

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

61

Lysosomal acid lipase deficiency high-risk screening of patients with fatty liver and dyslipidemia using DBS in Japan

Miyajima, Takashi, Akiyama, Keiko, Igarashi, Junko, Hossain, Mohammad Arif, Yanagisawa, Hiroko, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

62

Cervical spine surgery in MPS IVA: a single center experience

Zuberi, Karim, Tylee, Karen L, Ramirez, Roberto, Mercer, Jean, Moss, Gill, Jameson, Elizabeth, Schwahn, Bernd, Jones, Simon A, Wright, Neville, Broomfield, Alexander

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 30 KB

english, 2017

63

Messenger RNA (mRNA) delivery to the liver corrects ornithine transcarbamylase deficiency in a mouse disease model

Brandt, Gordon, Prieve, Mary, Bell, Eric, Blevins, Teri, Galperin, Anna, Harvie, Pierrot, Li, Allen, Menye, Jean-Rene Ella, Monahan, Sean, Paschal, Amber, Roy, Debashish, Waldheim, Matt, Houston, Mich

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

64

Neuropsychological profile of long-term treated patients with classic infantile Pompe disease

Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke, Plug, Iris, Regal, Luc, Muentjes, Carsten, van der Beek, Nadine, Lequin, Maarten, Van der Ploeg, Ans, Van den Hout, Hannerieke

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 67 KB

english, 2017

65

Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect

Flanigan, Kevin M., Truxal, Kristen V., McBride, Kim L., McNally, Kelly A., Kunkler, Krista L., Zumberge, Nicholas A., Martin, Lisa, Aylward, Shawn C., Corridore, Marco, McKee, Christopher, Fu, Haiyan

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

66

14 novel mutations of GLA gene as a result of selective Fabry disease screening in Russian Federation

Namazova-Baranova, Leyla, Savostyanov, Kirill, Sukhozhenko, Alexey, Pushkov, Alexander, Mazanova, Nataliya, Pakhomov, Alexander, Baranov, Alexander

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

67

Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio syndrome type A), a model for the ultra rare disease community

Roberts, Charlotte, Lavery, Christine, Nicholls, Nigel, Jain, Mohit, Hendriksz, Christian J, Upadhyaya, Sheela, Jessop, Edmund

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

68

Patient derived phenotypic high throughput assay to discover treatments for Tay-Sachs disease

Jacobson, Marlene A., Colussi, Dennis J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

69

Molecular Genetics and Metabolism Reports

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 94 KB

english, 2017

70

Immunogenicity to cerliponase alfa, an enzyme replacement therapy for patients with CLN2 disease: results from a phase 1/2 study

Cherukuri, Anu, Cahan, Heather, Van Tuyl, Andrea, de Hart, Greg, Slasor, Peter, Bray, Laurie, Henshaw, Josh, Ajayi, Temitayo, Jacoby, Dave, O'Neill, Charles, Schweighardt, Becky

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

71

Design and rationale of ongoing observational and treatment studies for BMN 250: a novel enzyme replacement therapy for Sanfilippo syndrome type B

Shaywitz, Adam, Maricich, Stephen, Yu, Hua, Kent, Steve

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

72

Response of patients with Fabry disease with the amenable GLA mutation p.N215S to treatment with migalastat

Hughes, Derralynn A., Nicholls, Kathleen, Germain, Dominique P., Shankar, Suma P., Sunder-Plassmann, Gere, Bichet, Daniel G., Schiffmann, Raphael, Viereck, Christopher, Skuban, Nina, Yu, Julie, Castel

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

73

Cardiac assessment in Egyptian type 3 Gaucher disease and report of calcifications in homozygous L444P mutation

Abdelwahab, Magy, Fattouh, Aya, Hamza, Hala, Abdelaziz, Doaa

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 105 KB

english, 2017

74

Increase synthesis of collagen type I: an early event in Fabry cardiomyopathy. New biomarkers?

Aguiar, Patrício, Azevedo, Olga, Pinto, Rui, Marino, Jacira, Cardoso, Carlos, Soares, José Luís Ducla, Hughes, Derralynn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 120 KB

english, 2017

75

Characterization of a secondary deficiency of neuraminidase activity in a unique ovine model of GM1 gangliosidosis

Ahern-Rindell, Amelia, Quackenbush, Alexandra, McCrohan, Sara

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

76

Neurocognitive and behavioral longitudinal trajectory of Hurler-Scheie syndrome patients with L238Q mutation

Ahmed, Alia, Shapiro, Elsa, Rudser, Kyle, Whitley, Chester

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

77

Small molecule therapies for juvenile neuronal ceroid lipofuscinosis

Ahrens-Nicklas, Rebecca C, Tecedor, Luis, Schultz, Mark L, Lysenko, Elena, Ramachandran, Shyam, Marsh, Eric D, Davidson, Beverly L

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

78

Preliminary validation of telecounseling for depression in patients with Fabry disease

Ali, Nadia, Gillespie, Scott, Laney, Dawn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

79

Interaction between the human GALNS crystal structure and different ligands using computational molecular docking

Almeciga-Diaz, Carlos J, Olarte-Avellaneda, Sergio, Rodriguez-Lopez, Alexander

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

80

High dose alglucosidase alfa to reverse ventilator dependence during clinical deterioration in a patient with Pompe disease

AlSayed, Moeenaldeen, Alsakran, Aljohara

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

81

Response to high dose escalation therapy with sebelipase alfa in a patient with severe infantile lysosomal acid lipase deficiency (ILALD) and further insight into this disease

AlSayed, Moeenaldeen, Huma, Rozeena, Ahmad, Wijdan

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

82

Short-term longitudinal cognitive and neuroimaging studies of untreated fucosidosis

Anderson, Nicole A, Miller, Weston P, King, Kelly, Orchard, Paul J, Raymond, Gerald, Eisengart, Julie B

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

83

Assessing underlying chronic inflammation status in type 1 Gaucher disease patients (GD1): involvement of lipocaline (LCN2) and other monocyte cytokines

Andrade-Campos, Marcio M, Garcia-Sobreviela, María Pilar, Medrano-Engay, Blanca, Irun, Pilar, Gervas, Javier, Arbonés, José Miguel, Giraldo, Pilar

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

84

Incidental diagnosis of a 35 year old pregnant woman with presymptomatic Pompe disease by expanded carrier screening

Anstett, Kara, Lau, Heather

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

85

Hypersensitivity reactions to enzyme replacement therapy for lysosomal diseases in Brazil: outcomes and safety of 1,140 rapiddesensitizations

Aranda, Carolina, Ensina, Luis Felipe, Solé, Dirceu, Martins, Ana Maria

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

86

PRKAG2 as a mimicker of Pompe disease

Austin, Stephanie L, Torok, Rachel D., Phornphutkul, Chanika, Rotondo, Kathleen, Buckley, Anne F, Tatum, Gregory H., Wechsler, Stephanie B, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

87

A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation

Bailey, Lauren A, Rairikar, Mugdha, Desai, Ankit, Kazi, Zoheb, Case, Laura, Kishnani, Priya

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

88

Relation between homocysteine and vitamin B12 levels in Brazilian patients with Gaucher disease

Basgalupp, Suelen P, Siebert, Marina, Vairo, Filippo P, Schwartz, Ida Vanessa D

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 57 KB

english, 2017

89

The role of mesenchymal stem cells in the development of bone pathology and myeloma in Gaucher disease

Beaton, Brendan, Reed, Matthew, Hughes, Derralynn A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

90

Identification of drugs to treat MPS I caused by nonsense mutations

Bedwell, David, Gunn, Gwen, Siddiqui, Amna, Du, Ming, Bostwick, Bob, Suto, Mark, Rowe, Steven, Keeling, Kim M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

91

Design and rational of the natural history study in preparation for the pivotal clinical trial for the treatment of Sanfilippo syndrome type A

Bekkali, Soraya, Parker, Samantha, Chakrapani, Anupam, Giugliani, Roberto, Heron, Benedicte, Muschol, Nicole, Roberts, Charlotte, Wijburg, Frits

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

92

Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases

Bekri, Soumeya, Sudrié-Arnaud, Bénédicte, Charbonnier, Françoise, Dranguet, Hélène, Coutant, Sophie, Vezain, Myriam, Lanos, Raphaël, Tournier, Isabelle, Saugier-Veber, Pascale

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

93

Recovery of neurologic function in mucopolysaccharidosis type I mice with existing neurocognitive dysfunction by treatment with AAV9-IDUA vector

Belur, Lalitha, Podetz-Pedersen, Kelly M, Low, Walter C, McIvor, R. Scott

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

94

Investigation on acute effects of ERT and influence of clinical severity on physiological variables related to exercise tolerance in late onset Pompe disease

Bembi, Bruno, Sechi, Annalisa, Salvadego, Desy, Andrea, Dardis, Cattarossi, Silvia, Devigili, Grazia, Fabio, Reccardini, Grassi, Bruno

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

95

Rapidly progressive hepatosteatosis and liver failure five years after liver transplantation in a patient with lysosomal acid lipase deficiency

Bernstein, Donna L., Schiano, Thomas, Desnick, Robert J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

96

Mucopolysaccharidosis type IIIA storage substrate drives an innate immune neuro-inflammatory response

Bigger, Brian, Boutin, Herve, Wilkinson, Fiona, Holley, Rebecca, Brough, David, Pinteaux, Emmanuel, Parker, Helen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

97

Biochemical and genetic data in a large, worldwide Fabry cohort

Boettcher, Tobias, Cozma, Claudia, Iurascu, Marius, Kramp, Guido, Eichler, Sabrina, Lukas, Jan, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

98

Osteocytes contribute to bone pathology in Gaucher disease

Bondar, Constanza, Mucci, Juan Marcos, Crivaro, Andrea, Ormazabal, Maximiliano, Ceci, Romina, Ferreyra, Malena, Delpino, Victoria, Rozenfeld, Paula

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

99

Improvement in pulmonary function and serum immunoglobulin G in long-term enzyme replacement therapy with velmanase alfa(human recombinant alpha-mannosidase) in alpha-mannosidosis patients

Borgwardt, Line, Lund, Allan M, De Meirleir, Linda, Amraoui, Yasmina, Andersen, Oluf, Dolhem, Philippe, Campos, Mercedes Gil, Guffon, Nathalie, Héron, Bénédicte, Jameson, Elisabeth, Jones, Simon A, La

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

100

Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients

Borgwardt, Line, Lund, Allan M, Amraoui, Yasmine, Andersen, Oluf, De Meirleir, Linda, Dolhem, Philippe, Campos, Mercedes Gil, Guffon, Nathalie, Héron, Bénédicte, Jameson, Elisabeth, Jones, Simon A, La

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

101

Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis

Borgwardt, Line, Lund, Allan M, Amraoui, Yasmina, Andersen, Oluf, De Meirleir, Linda, Dolhem, Philippe, Campos, Mercedes Gil, Guffon, Nathalie, Héron, Bénédicte, Laroche, Cecile, Lindberg, Christoffer

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

102

Ophthalmologic findings in Fabry disease patients: relation to disease severity and to enzyme replacement therapy in a Mexican family

Borja-Borja, Araceli, Salas-Pérez, Gabriela, Gutiérrez-Ponce, Jorge, Sánchez-Acosta, Antonio, Radillo-Díaz, Pablo, Sierra, Fátima, García-Pérez, Juan C

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

103

Sulfpraphane induces autophagy and reduces the level of mutated huntingtin in human fibroblasts

Brokowska, Joanna, Hac, Aleksandra, Wegrzyn, Grzegorz, Herman-Antosiewicz, Anna

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

104

Rapid progressive leukodystrophy in early childhood: a new phenotype for treated infantile onset Pompe patients?

Broomfield, Alexander, Fletcher, Joan, Hensman, Pauline, Prunty, Helen, Jones, Simon, Pavaine, Julia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

105

Combined therapeutic approach to protein losing enteropathy complicating type 3 Gaucher disease using eliglustat

Broomfield, Alexander, Mercer, Jean, Church, Heather J, Chronopoulou, Efstathia, Pierre, Germaine, Wiskin, Anthony, Booth, Kathryn, Jones, Simon A, Sutherland, Adam

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

106

A single center's 10-year experience of idursulfase in MPS II

Broomfield, Alexander, Roberts, Jane, Schwahn, Bernd, Jameson, Elizabeth, Hensman, Pauline, Hajiani, Nadia, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

107

Long-term benefit of sebelipase alfa over 76 weeks in children and adults with lysosomal acid lipase deficiency (LALD) “ARISE”

Burton, Barbara K., Marulkar, Sachin, Friedman, Mark, Tripuraneni, Radhika, Furuya, Katryn N.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

108

Cell cycle progression is disrupted in murine MPS VII growth plate chondrocytes

Byers, Sharon, Jiang, Zhirui, Reichstein, Clare, Derrick-Roberts, Ainslie L.K.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

109

Long term enzyme replacement therapy for Fabry disease: effectiveness on heart, kidney and brain

Cabrera, Gustavo H, Politei, Juan Manuel

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

110

A case report of a Hispanic male with mucolipidosis III gamma with mild disease in the presence of a homozygous nonsense mutation

Cagle, Stephanie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

111

Iduronate-2-sulfatase proteome isolation from mouse brain and identification of changes in the proteomic profiling in murine model for Hunter syndrome

Cardona, Carolina, Pimentel, Luisa Natalia, Rodríguez, Edwin Alexander, Reyes, Luis Humberto, Barrera, Luis Alejandro, Alméciga-Diaz, Carlos J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

112

Accumulation of globotriaosylceramide (GL3) in cardiomyocytes (CM) is progressive with age and inversely correlates with baseline alpha galactosidase A (AGALA) activity in enzyme replacement therapy (ERT)-naïve Fabry patients with IVS4 + 919G&gt/;A mutation

Chang, Fu-Pang, Hsu, Ting-Rong, Hung, Sheng-Che, Sung, Shih-Hsien, Yu, Wen-Chung, Niu, Dau-Ming, Najafian, Behzad

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 55 KB

english, 2017

113

Mechanism and efficiency of delivery of therapeutic enzymes in different cell models of Fabry disease

Changsila, Parapoj, Turgut, Alper, Jani, Chandni, Ivanova, Margarita, Goker-Alpan, Ozlem

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

114

Risk assessments in infants suspect having later-onset Pompe disease identified through newborn screening

Chien, Yin-Hsiu, Chen, Pin-Wen, Wang, Ping-Chun, Chiang, Shu-Chuan, Hwu, Wuh-Liang

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

115

Dose-ranging comparison of choroid plexus-directed versus pan-neuronal-directed recombinant AAV gene therapy in a murine model of alpha-mannosidosis

Choi, Eun-Young, Kaler, Stephen G

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

116

Delivery of lysosomal enzymes via EXPLOR: exosome engineered for protein loading by optogenetically reversible protein interaction

Choi, Hojun, Yim, Nambin, Ryu, Seung-Wook, Choi, Kyungsun, Choi, Chulhee

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

117

Development of a stem cell gene therapy for Sanfilippo syndrome type B

Clarke, Don L, Sanguez, Valentina, Kan, Shih, Lee, Steven, Iacovino, Michelina, Dickson, Patricia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

118

The glial contribution to pathogenesis differs between forms of Batten disease: implications for therapy

Cooper, Jonathan D, Lange, Jenny, van Trigt, Laurent, Brooks, Helen, Parviainen, Lotta, Dihanich, Sybille, Anderson, Greg, Williams, Brenda P

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

119

C26-ceramide is a new and sensitive biomarker for Farber disease

Cozma, Claudia, Iurascu, Marius, Zielke, Susanne, Lukas, Jan, Eichler, Sabrina, Rolfs, Arndt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

120

The impact of the disease burden on the quality of life of patients with lysosomal diseases: preliminary data of adult patients under enzyme replacement therapy

Curiati, Marco Antonio, Kyosen, Sandra Obikawa, Coelho, Erika Mitie Yamashiro, Chen, Kelin, Sakata, Edna Tiemi, Silva, Rosangela Maria, Martins, Ana Maria

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

121

Abnormal leukocyte galactocerebrosidase activity complicating a diagnosis of hereditary spastic paraplegia 15 (SPG-15)

Davison, James E, Beesley, Clare, Hurst, Jane A, Wigley, Ralph, Anderson, Glenn, Cregeen, David, Green, Elizabeth, Jackson, Marie, Bhate, Sanjay, D'Arco, Felice, Cleary, Maureen A, Heales, Simon R, Ha

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

122

Enzyme replacement therapy infusion related reactions: review of acute assessment, investigation and management in a large single-centre cohort of children with lysosomal diseases, and development of a novel “Traffic-Light” assessment and management protocol

Davison, James, White, Marie, Gan, Chin, Mnkandla, Sindiwise, Ingry, Camero, Batzios, Spyros, Chakrapani, Anupam, Footitt, Emma, Gissen, Paul, Grunewald, Stephanie, Cleary, Maureen A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

123

Treatment patterns from 647 patients with Gaucher disease: an analysis from the Gaucher Outcome Survey

Deegan, Patrick, Fernandez-Sasso, Diego, Giraldo, Pilar, Lau, Heather, Panahloo, Zoya, Zimran, Ari

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

124

ZFN-mediated in vivo genome editing results in phenotypic correction in murine MPS I and MPS II models

DeKelver, Russell, Ou, Li, Laoharawee, Kanut, Tom, Susan, Radeke, Robert, Rohde, Michelle, Sproul, Scott, Przybilla, Michael, Koniar, Brenda L, Podetz-Pedersen, Kelly, Cooksley, Renee D, Holmes, Micha

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

125

PReFiNe project: strategic plan to improve knowledge & recognition of Fabry disease among Spanish nephrologists

del Pino, Dolores, Andres, Amado, Avila, Ana, de Juan, Joaquin, Fernandez, Elvira, de Dios Garcia, Juan, Hernandez, Domingo, Luño, Jose, Martinez, Isabel, Paniagua, Jose, Posada, Manuel, Rodriguez, Jo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

126

Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase functional muscle strength in a mouse model of Pompe disease

Do, Hung, Lun, Yi, Xu, Su, Soska, Rebecca, Nair, Anju, Frascella, Michelle, Garcia, Anadina, Schilling, Adriane, Valle, Cecilia D, Feng, Jessie, Gotschall, Russell, Valenzano, Kenneth J, Khanna, Richi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

127

Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac, and stroke clinics

Doheny, Dana O, Srinivasan, Ram, Desnick, Robert J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

128

Evolving observational registries: an evidence based approach to understanding data availability in the "Sanofi Genzyme Rare Disease Registries"

Dong, Danielle, Batista, Julie, Belk, Katherine, Cizmarik, Marta, Clatterbuck, Cinde, Faherty, Kathleen, Findlay, Hugh, Foster, Jean, Glaetzer, Anja, Gruskin, Daniel, Hartman, Bill, Ioschpe, Rafael, L

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

129

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

Dündar, Halil, Biberoglu, Gürsel, Okur, İlyas, Tümer, Leyla, Ezgü, Fatih Suheyl

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

130

Preliminary findings of a twenty-six week or longer intracerebroventricular infusion study of BMN 250 administered once every 2 weeks in a canine model of mucopolysaccharidosis type IIIB

Ellinwood, N. Matthew, Valentine, Bethann, Hess, Andrew S, Jens, Jackie K, Snella, Elizabeth M, Ware, Wendy A, Hostetter, Shannon J, Ben-Shlomo, Gil, Jeffery, Nicholas D, Safayi, Sina, Smith, Jodi D,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

131

Cardiovascular manifestations of feline Sandhoff disease after intravenous AAV gene therapy

Ellis, Lauren E, Winter, Randolph, Gray-Edwards, Heather L, Maitland, Stacy, Randle, Ashley E, Edwards, Robert, Sena-Esteves, Miguel, Martin, Douglas R, Wang, Raymond Y

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

132

Medical histories in Gaucher disease: a descriptive analysis from 852 patients in the Gaucher Outcome Survey (GOS)

Elstein, Deborah, Belmatoug, Nadia, Giraldo, Pilar, Lau, Heather, Lukina, Elena, Panahloo, Zoya, Zimran, Ari

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

133

Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network

Federhen, Andressa, Poswar, Fabiano Oliveira, Trapp, Franciele Barbosa, da Rosa, Heluísa Castagnino, Silva, Laysla Pedelhes, Rocha, Daniele Lima, Burin, Maira Graeff, Guidobono, Regis R, De Mari, Jure

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

134

Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT

Feldt-Rasmussen, Ulla, Giugliani, Roberto, Germain, Dominique P., Hughes, Derralynn A., Wilcox, William R., Schiffmann, Raphael, Bichet, Daniel G., Jovanovic, Ana, Bratkovic, Drago, Castelli, Jeffrey

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

135

Intrafamilial variability in the clinical presentation of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy, Jego, Virginie, Parini, Rossella

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

136

Cardiovascular mortality and potential predictors in patients with Fabry disease treated with agalsidase alfa

Finn, Veronica M., Ferrari, Gustavo Maria, Reisin, Ricardo, Neumann, Pablo, Rozenfeld, Paula, Quieto, Pedro, Choua, Martín, Martinez, Pablo, Kisinovsky, Isaac, Caceres, Guillermo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

137

Echocardiographic assessment of Morquio syndrome type A mice

Flanagan, Michael, Gan, Qi, Wang, Raymond, Srigiri, Medha, Montaño, Adriana

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

138

Impact of miglustat therapy on the hypophosphatasia mouse model

Flanagan, Michael, Patel, Ashaki, Gan, Qi, Pinni, Sai, Puckett, Yana, Patel, Birju, Montaño, Adriana

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

139

Improving the detection of heterozygous females for Fabry disease

Frabasil, Joaquin, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Schenone, Andrea Beatriz

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

140

Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

Friedman, Mark, Jones, Simon A., Brassier, Anais, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Breen, Catherine, Gargus, J. Jay, Marulkar, Sachin, Valayannopoulos, Vassili

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

141

Immune mediated myocarditis in Fabry disease cardiomyopathy

Frustaci, Andrea, Verardo, Romina, Grande, Claudia, Galea, Nicola, Carbone, Iacopo, Alfarano, Maria, Russo, Matteo Antonio, Chimenti, Cristina

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

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english, 2017

142

Global metabolomics profiling reveals profound metabolic impairments in patients with mucopolysaccharidosis type III

Fu, Haiyan, Meadows, Aaron S., Pineda, Ricardo, Stirdivant, Steven, McCarty, Douglas M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

143

Fabry disease symptoms confined to the kidney in a large family with the M296V genotype

Gallagher, Katie, Banikazemi, Maryam

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

144

Late-onset Pompe disease with atypical presentation: What else is going on?

Ganesh, Jaya, Scarano, Maria I., Hardiman, Michael, Kishnani, Priya

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

145

Fluorinated chaperone-β-cyclodextrin formulations for neuronopathic Gaucher disease

Garcia Fernandez, Jose M., Sanchez-Fernandez, Elena M., de laMata, Mario, García Moreno, Maria I., Benito, Juan M., Nanba, Eiji, Suzuki, Yoshiyuki, Higaki, Katsumi, Sanchez-Alcazar, Jose A., Mellet, C

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

146

In vivo Raman micro-spectroscopy: a new way to screen Fabry disease

Garnotel, Roselyne

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

147

Newborn screening and post-screening diagnosis of lysosomal diseases

Gelb, Michael H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

148

The phenotypic characteristics of the p.N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study

Germain, Dominique P., Brand, Eva, Cecchi, Franco, Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephan, Wanner, Christoph

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 70 KB

english, 2017

149

Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study

Germain, Dominique P., Giugliani, Roberto, Bichet, Daniel G., Wilcox, William R., Hughes, Derralynn A., Amartino, Hernán M., Schiffmann, Raphael, Viereck, Christopher, Skuban, Nina, Castelli, Jeffrey

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

150

Effects of treatment with migalastat on the combined endpoint of kidney globotriaosylcermide accumulation and diarrhea in patients with Fabry disease: results from the phase 3 FACETS study

Germain, Dominique P., Hughes, Derralynn A., Bichet, Daniel G., Schiffmann, Raphael, Wilcox, William R., Holdbrook, Fred, Viereck, Christopher, Yu, Julie, Skuban, Nina, Castelli, Jeffrey P., Barth, Ja

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

151

Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (Wolman disease)

Ghosh, Arunabha, Cooper, James, Church, Heather, Jones, Simon A., Wu, HoiYee

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

152

Home enzymatic therapy administration for Gaucher disease in Spain: first national experience

Giner-Galvañ, Vicente, Mora-Val, Carmen, Perpiñán-Hernández, Javier, Vazquez, Irene, Solanich, Xavier, Sanzo, Carmen, Luaña, Armando, Lopez-Dupla, Jesus M., Fernandez, Esperanza, Cano, Horacio

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

153

Proposal of a tool for the asessement of quality of Gaucher disease clinical management

Giner-Galvañ, Vicente, Fernandez, Maria A., Villarrubia, Jesus, Fernandez, Jorge J., Nuñez, Ramiro, Arenas, Carlos A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

154

Qualitative evaluation of home therapy administration of enzymatic treatment for patients with Gaucher and Fabry disease in the Comunitat Valenciana in Spain: point of view of patients and health care professionals

Giner-Galvañ, Vicente, Carrascosa-Piquer, Olga, Mora-Val, Carmen, Perpiñán-Hernández, Javier, Almela-Tejedo, Mercedes, Cornejo-Uixeda, Silvia, Sarrió-Montes, Gema, Sánchez-Alcaraz, Agustín, Vicente-Na

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

155

Home enzymatic infusion program for Gaucher and Fabry diseases: economic impact evaluation of the experience in the Comunitat Valenciana in Spain

Giner-Galvañ, Vicente, Buigues-Pastor, Laia, Sánchez-Alcaraz, Agustín, Almela-Tejedo, Mercedes, Mora-Val, Carmen, Sarrió-Montes, Gema, Perpiñá-Hernández, Javier, Carrascosa-Piquer, Olga, Cornejo-Uixed

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

156

Is there an increased incidence of neoplasia in Spanish Gaucher disease patients?

Giraldo, Pilar, Barez, Abelardo, Noya-Pereira, Soledad, Galán, Angeles Fernández, Dalmau, Fernando García-Bragado, Frade, Javier García, Ibañez, Angela, Andrade-Campos, Marcio

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

157

Intravenous infusion of iduronidase-IgG and its impact on the central nervous system in children with Hurler syndrome

Giugliani, Roberto, Nestrasil, Igor, Chen, Steven, Pardridge, William, Rioux, Patrice

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

158

Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study

Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Leao-Teles, Elisa, Jones, Simon A., Quartel, Adrian, Harmatz, Paul R.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

159

Clinical outcomes after 3 years of idursulfase treatment in patients with MPS II: data from the Hunter Outcome Survey (HOS)

Giugliani, Roberto, Scarpa, Maurizio, Tylki-Szymańska, Anna, Beck, Michael, Jego, Virginie, Muenzer, Joseph

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

160

Whole body correction of severe mucopolysaccharidosis type II by lentiviral-mediated stem cell gene therapy with blood-brain barrier-crossing peptides

Gleitz, Hélène F.E., O'Leary, Claire, Holley, Rebecca J., Bigger, Brian W.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

161

Delivery highways: tunneling nanotubes facilitate transfer of therapeutic molecules for gene therapy treatment of cystinosis

Goodman, Spencer, Chua, Emily, Naphade, Swati, Sharma, Jay, Gaide Chevronnay, Héloïse P., Courtoy, Pierre J., Cherqui, Stephanie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

162

Natural history of siblings with mucopolysaccharidosis type IIIA, Sanfilippo syndrome type A

Gossler, Alexandra, Koehn, Anja, Meyer, Ann, Kossow, Kai, Ullrich, Kurt, Muschol, Nicole

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

163

Long term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicistronic AAV gene therapy vector

Gray-Edwards, Heather L., Ellis, Lauren, Jiang, Xuntain, Randle, Ashley, Hudson, Judith, Ory, Dan, Sena-Esteves, Miguel, Martin, Doug

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

164

Impact of education and the facilitation of carrier screening in a population at increased risk for lysosomal diseases

Grinzaid, Karen A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

165

Lucerastat, an iminosugar for substrate reduction therapy: pharmacokinetics, tolerability, and safety in subjects with mild, moderate, and severe renal function impairment

Guérard, Nicolas, Zwingelstein, Christian, Dingemanse, Jasper

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

166

Lucerastat, an iminosugar for substrate reduction therapy: safety, tolerability, pharmacodynamics, and pharmacokinetics in adult subjects with Fabry disease

Guérard, Nicolas, Oder, Daniel, Nordbeck, Peter, Zwingelstein, Christian, Morand, Olivier, Welford, Richard, Dingemanse, Jasper, Wanner, Christoph

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

167

MPS I and carpal tunnel syndrome: analysis using the MPS I Registry

Guffon, Nathalie, Viskochil, David, Hutchinson, Douglas T., Garin, Christophe, Moy, Kristin A., Munoz-Rojas, M. Veronica, Muenzer, Joseph

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

168

Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation

Gupta, Punita, Shayota, Brian, Gomez, Alejandra, Tambini-King, Lorien, Kazi, Zoheb, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

169

Infantile Tay-Sachs disease: a case report

Gupta, Punita, Gomez, Alejandra

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

170

Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease

Ha, Christine I., Desai, Ankit K., Waterfield, Justin, Kazi, Zoheb B., Austin, Stephanie L., Bossen, Edward H., Kishnani, Priya S., Buckley, Anne F.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

171

Functions of lysosomes are impaired during prolonged stress conditions in cells devoid of S6K1/2

Hac, Aleksandra, Pierzynowska, Karolina, Herman-Antosiewicz, Anna

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

172

Chronic HDACi therapy to treat multiple lysosomal diseases

Haldar, Kasturi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

173

A conceptual framework of patient-reported outcomes for type 3 Gaucher disease

Hamed, Alaa, Nalysnyk, Lubomyra, Tilimo, Milki, Krupnick, Robert, Gee, Alex

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

174

PRO instrument development for late-onset Pompe disease

Hamed, Alaa, Stewart, Andrew, Tilimo, Milki, Krupnick, Robert, Maddux, LeAnne, Meyer, Margaret

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

175

Modeling of changes in forced vital capacity and late-onset Pompe disease related outcomes

Hamed, Alaa, Kanters, Steve, Stewart, Andrew, Tilimo, Milki, Bolzani, Anna, Siliman, Gaye, Jansen, Jeroen P.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

176

Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease

Han, Sang-oh, Haynes, Alexina C., Li, Songtao, Kishnani, Priya S., Kishnani, Priya S., Steet, Richard, Koeberl, Dwight D.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

177

Characteristics of patients with mucopolysaccharidosis type II (MPS II) diagnosed aged <5 years: data from the Hunter Outcome Survey (HOS)

Harmatz, Paul, Lin, Shuan-Pei, Muenzer, Joseph, Giugliani, Roberto, Guffon, Nathalie, Jego, Virginie, Burton, Barbara K.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 67 KB

english, 2017

178

A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII

Harmatz, Paul, Whitley, Chester B., Wang, Raymond Y., Bauer, Mislen, Song, Wenjie, Jacobs, Karen, Schwartz, Erin, Haller, Christine, Kakkis, Emil

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

179

Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins

Hassan, Shahzeb, Grey, Richard, Donovan, Frank, Biegstraaten, Marieke, Hollak, Carla, Sidransky, Ellen, Tayebi, Nahid

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 55 KB

english, 2017

180

The Pennsylvania newborn screening experience for Pompe disease

Henderson, Nadene D., Ficicioglu, Can, Ortiz, Damara, Ahrens-Nicklas, Rebecca, Gordon, Patricia, Ieradi-Curto, Lynne, Cuddapah, Sanmati, El-Gharbawy, Areeg, Lichter-Konecki, Uta, Sebastien, Jessica, B

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

181

Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A

Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A.,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

182

Arterial tortuosity is a new clinical feature in patients with mucopolysaccharidosis type IVA

Hennermann, Julia B., Goekce, Seyfullah, Weyer-Elberich, Veronika, Mengel, Eugen, Kampmann, Christoph, Tanyildizi, Yasemin, Brockmann, Marc A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

183

Burden of Fabry disease in young patients (≤30 years of age) who were initiated on enzyme replacement therapy with agalsidase beta: a Fabry Registry analysis

Hopkin, Robert J., Brand, Eva, Rasmussen, Ulla F., Germain, Dominique P., Guffon, Nathalie, Jovanovic, Ana, Kantola, Ilkka, Karaa, Amel, Lemay, Roberta, Martins, Ana M., Wilcox, William R., Yoo, Han-W

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 67 KB

english, 2017

184

State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases

Hopkins, Patrick V., Klug, Tracy, Rogers, Sharmini V., Kiesling, Jami

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

185

The severity of phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele

Hossain, Mohammad A., Yanagisawa, Hiroko, Miyajima, Takashi, Wu, Chen, Itagaki, Rina, Akiyama, Keiko, Iwamoto, Takeo, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

186

Two-year postmarketing safety experience with oral eliglustat in adults with type 1 Gaucher disease

Hou, Audrey W., Patel, Palni, Peterschmitt, M. Judith, Ibrahim, Jennifer, Gaemers, Sebastiaan J.M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

187

Generation of infantile- and late-onset Pompe disease models using CRISPR-Cas9 genome editing

Huang, Jeffrey Y., Wang, Raymond Y.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

188

Sub-analysis of long-term elosulfase alfa treatment outcomes in adults with Morquio syndrome type A

Hughes, Derralynn, Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Mengel, Karl-Eugen, Parini, Rossella, Matousek, Robert, Jurecki, Elaina, Quartel, Adrian

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

189

One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy

Hughes, Derralynn, Boyd, Simeon, Giraldo, Pilar, Gonzalez, Derlis, Holida, Myrl, Goker-Alpan, Ozlem, Maegawa, Gustavo, Atta, Mohamed, Nicholls, Kathy, Schiffmann, Raphael, Tuffaha, Ahmad, Barisoni, La

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

190

Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction

Huston, Marshall W., Yasuda, Makiko, Pagant, Silvere, St. Martin, Susan, Sproul, Scott, Santiago, Yolanda, DeKelver, Russel, Holmes, Michael C., Desnick, Robert, Wechsler, Thomas

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

191

A transgenic silkworm overexpressing human lysosomal enzyme as a novel resource for producing recombinant glycobiologics and its application to development of enzyme replacement therapy for lysosomal diseases

Itoh, Kohji, Kobayashi, Isao, Nishioka, So-ichiro, Hidaka, Tomo, Tsuji, Daisuke, Sezutsu, Hideki

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

192

Personalized medicine strategies in lysosomal diseases: cell models for in vitro screening in Gaucher disease

Ivanova, Margarita, Changsila, Erk, Goker-Alpan, Ozlem

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

193

Injectable microgels development for sustained GALNS enzyme replacement therapy for Morquio syndrome type A

Jain, Era, Sheth, Saahil, Patel, Shiragi, Flanagan, Michael, Gan, Qi, Sell, Scott A., Montaño, Adriana M., Zustiak, Silviya P.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

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english, 2017

194

Optical non-invasive detection of Niemann-Pick disease in vitro and in vivo

Jena, Prakrit V., Galassi, Thomas V., Roxbury, Daniel, Schwartz, Robert E., Maxfield, Frederick R., Heller, Daniel A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

195

Novel NAGLU variants associated with MPS IIIB and in vitro analysis of residual enzymatic activities

Ji, Rui-Ru, Whitley, Chester B., Escolar, Maria L., Vijay, Suresh, Wijburg, Frits A., Giugliani, Roberto, Hutchinson, Andrew, Jain, Nina, Forbes, Chris, Bubb, Gillian, Patki, Kiran C.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

196

Migalastat exposures in Japanese healthy volunteers and non-Japanese subjects provide evidence that they are similar to Japanese patients with Fabry disease

Johnson, Franklin K., Ohashi, Toya, Yang, Linda, Yu, Julie, Skuban, Nina, Castelli, Jeffrey, Barth, Jay

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

197

Respiratory muscle training in late-onset Pompe disease

Jones, Harrison N., Nicholson, Kaylea, Crisp, Kelly D.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

198

Novel molecular tools to advance the evaluation of Gaucher disease therapeutics in live cells

Jung, OIive, Patnaik, Samarjit, Westbroek, Wendy, Stachel, Shawn, Breslin, Michael, Cramer, Paige, Titus, Steve, Voss, Ty, Marugan, Juan, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

199

Quantitative systems pharmacology model of acid sphingomyelinase deficiency and the enzyme replacement therapy olipudase alfa is aninnovative tool for linking pathophysiology and pharmacology

Kaddi, Chanchala, Baek, Rena, Jasper, Paul, Niesner, Bradley, Pappas, John, Tolsma, John, Li, Jing, Watson, Shayne, Tan, Sharon, Puga, Ana Cristina, Schuchman, Edward, Barrett, Jeffrey S., Azer, Karim

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

200

The effects of sub-maximal aerobic exercise in adults with late-onset Pompe disease (LOPD)

Kahraman, Ayfer, Murphy, Elaine M., Lachmann, Robin H., Hendriksz, Chris, Dando, Stephen, Roberts, Mark, Silk, Edward

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

201

AAAV5-mediated gene therapy with choroid plexus-directed α-n-acetyl-glucosaminidase expression in Sanfilippo syndrome type B mice

Kan, Shih-hsin, Le, Steven Q., Dickson, Patricia I.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

202

PQ-interval and QRS duration increased in Fabry patients treated by enzyme replacement therapy for 12 years

Kantola, Ilkka, Annala, Antti-Pekka, Helio, Tiina, Hietaharju, Aki, Kantola, Taru, Kananen, Kristiina, Karhu, Anne, Kokkonen, Jorma, Kuusisto, Johanna, Pietila-Effati, Paivi, Rainto, Miia, Saarinen, J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

203

Role of oxidative stress and inflammation in type 1 Gaucher disease (GD1): Potential use of antioxidant/anti-inflammatory medications

Kartha, Reena V., Joers, James, Tuite, Paul, Hovde, Laurie B., Mishra, Usha, Rudser, Kyle, Öz, Gülin, Utz, Jeanine Jarnes, Cloyd, James C.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

204

Successful treatment with eliglustat in unexpected gastrointestinal involvement in a patient with type 1 Gaucher disease

Kim, Yoo-Mi, Cheon, Chong Kun, Yoo, Han-Wook

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

205

Age and social functioning in individuals with MPS I, II, and VI

King, Kelly E., Shapiro, Elsa G., Eisengart, Julie B., Whitley, Chester B.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

206

Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry

Kishnani, Priya S., Abbott, Mary Alice, Chien, Yin-Hsiu, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Llerena, Juan C., Toscano, Antonio, van der Ploeg, Ans T., Maruti, Sonia, Sanson, Bernd

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

207

Clinical course in a MPS IIIA patient following hematopoietic stem cell transplantation: an eight-year follow up and comparison with the natural history in patients with identical mutations in the SGSH-gene

Koehn, Anja F., Grigull, Lorenz, Ullrich, Kurt, Muschol, Nicole Maria

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 66 KB

english, 2017

208

Gaucher disease patients show increased levels of hepcidin; evidence for iron-mediated injury

Koppe, Tiago, Siebert, Marina, Basgalupp, Suélen, Daudt, Liane, Schwartz, Ida

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

209

Glycosaminoglycan levels in dried blood spots of patients with mucopolyasccharidoses and mucolipidoses

Kubaski, Francyne, Suzuki, Yasuyuki, Orii, Kenji, Giugliani, Roberto, Church, Heather, Mason, Robert W., Dũng, Vũ C., Ngoc, Can T.B., Yamaguchi, Seiji, Kobayashi, Hironori, Girisha, K.M., Fukao, Toshi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

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english, 2017

210

LC/MS/MS measurement of glycosaminoglycans in amniotic fluid of a MPS VII fetus

Kubaski, Francyne, Mason, Robert W., Burin, Maira G., Michelin-Tirelli, Kristiane, Kessler, Rejane G., Bender, Fernanda, Brusius-Facchin, Ana C., Leistner-Segal, Sandra, Moreno, Carolina A., Cavalcant

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

211

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Kubaski, Francyne, Mason, Robert W, Nakatomi, Akiko, Shintaku, Haruo, Shintaku, Haruo, Xie, Li, van Vlies, Naomi N., Church, Heather, Giugliani, Roberto, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

212

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation

Kuiper, Gé-Ann, Van Hasselt, Peter M., Boelens, Jaap Jan, Wijburg, Frits A., Langereis, Eveline J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

213

Lysosomal production of granulins: implications for the pathogenesis of neuronal ceroid lipofuscinosis and frontotemporal dementia

Kukar, Thomas, Holler, Christopher J., Taylor, Georgia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

214

Subdural hematomas in a boy with mucopolysaccharidosis type IIIB

Kuzenkova, Ludmila M., Gevorkyan, Anait K., Osipova, Liliya A., Podkletnova, Tatyana V., Namazova-Baranova, Leila S., Vashakmadze, Nato D., Kuznetsova, Galina V.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

215

MPS II model cell line by CRISPR-Cas9 technique

Kwak, Heechun, Yun, Seongtae, Kang, Hyunju, Kim, Sung Eun, Hwang, Sungho

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

216

Interprofessional simulation training for emergencies in mucopolysaccharidoses

Lagler, Florian B., Scarpa, Maurizio, Botz, Aurel, Baumann, Marc, Schaefer, Matthias, Lampe, Christina

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

217

Sudden, pronounced height increase for adolescent and young adult males with Fabry disease

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

218

Reported outcomes of 453 pregnancies in patients with Gaucher disease: an analysis from the Gaucher Outcome Survey

Lau, Heather, Belmatoug, Nadia, Deegan, Patrick, Goker-Alpan, Ozlem, Schwartz, Ida Vanessa D., Shankar, Suma P., Panahloo, Zoya, Zimran, Ari

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

219

Profile of patients with mucopolysaccharidosis type II without cognitive impairment who started idursulfase treatment aged &gt/;20 years: data on late treatment initiation from the Hunter Outcome Survey (HOS)

Lau, Heather A., Hennermann, Julia, Guffon, Nathalie, Lin, Shuan-Pei, Jego, Virginie, Whiteman, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

220

Heterogeneity in Fabry disease

Lavalle, Lucia, Thomas, Alison, Beaton, Brendan, Ebrahim, Hatim, Reed, Matthew, Ramaswami, Uma, Mehta, Atul, Hughes, Derralynn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

221

Corpus callosum white matter myelination by neuroimaging and myelin composition analysis in murine mucopolysaccharidosis type I

Le, Steven, Kan, Shih-hsin, Grant, Nathan, Nestrasil, Igor, Tkac, Ivan, Tolar, Jakub, Yee, Jennifer, Dickson, Patricia I.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

222

Immunosuppressive effect on ERT inhibition in transplanted patients with Fabry disease

Lenders, Malte, Oder, Daniel, Nowak, Albina, Canaan-Kühl, Sima, Drechsler, Christiane, Schmitz, Boris, Nordbeck, Peter, Brand, Stefan-Martin, Wanner, Christoph, Brand, Eva

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

223

Renal function at ERT-naïve baseline predicts long-term outcome in Fabry disease

Lenders, Malte, Schmitz, Boris, Stypmann, Jörg, Duning, Thomas, Brand, Stefan-Martin, Kurschat, Christine, Brand, Eva

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

224

Treatment and clinical survey of females with Fabry disease in Germany

Lenders, Malte, Hennermann, Julia B., Kurschat, Christine, Rolfs, Arndt, Canaan-Kühl, Sima, Sommer, Claudia, Üçeyler, Nurcan, Kampmann, Christoph, Karabul, Nesrin, Giese, Anne-Katrin, Duning, Thomas,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

225

Fibrointimal thickening, elastin fragmentation and activated macrophages observed in coronary vasculature of a human mucopolysaccharidosis type VII patient

Lew, Valerie, Pena, Louis, Edwards, Robert, Wang, Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

226

Neurocognitive profiles of untreated Hunter syndrome

Lewis, Sarah, Shapiro, Elsa, Whitley, Chester, Delaney, Kathleen, Eisengart, Julie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

227

Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease

Lim, Han-Hyuk, Yi, Haiqing, Kishimoto, Takashi K, Gao, Fengqin, Sun, Baodong, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

228

Modulation of mTOR signaling as a therapeutic approach for Pompe disease

Lim, Jeong-A, Raben, Nina

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

229

Alterations in alpha-synuclein and parkin expression within PBMCs in patients and carriers of Gaucher disease with Parkinsonism

Limgala, Renuka P., Jani, Chandni, Badger, Ariel, Goker-Alpan, Ozlem

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

230

Role of dendritic cells and NK cells in immune hypersensitivity reactions in patients with Fabry disease

Limgala, Renuka P., Jennelle, Tabitha, Goker-Alpan, Ozlem

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

231

Effect of two different therapeutic interventions: SRT in comparison to ERT on immune aspects and bone involvement in Gaucher disease

Limgala, Renuka P., Arnone, Miriam, Goker-Alpan, Ozlem

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

232

Diffusion of intrathecally injected AAV9 in canine MPS VII: a peripheral nerve study

Lin, Gloria, Rosenberg, Danielle, Casal, Margret

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

233

Prompt agalsidase alfa therapy initiation after symptom onset is associated with improved renal and cardiovascular outcomes in the Fabry Outcome Survey

Linhart, Ales, Hughes, Derralynn, Gurevich, Andrey, Joseph, Alain, Kerstens, René, Feriozzi, Sandro

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

234

Towards a phase I clinical trial for autologous hematopoietic stem cells transplantation in cystinosis

Lobry, Tatiana, Sharma, Jay, Ur, Sarah, Lau, Athena, Rocca, Celine, Kohn, Donald B., Carbonaro, Denise, Cabrera, Betty, Hernandez, Laura, Cherqui, Stephanie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

235

Identification of lysosomal acid lipase (LAL) deficiency patients using key existing clinical data points focused on BMI, type 2 hyperlipidemia, and/or fatty liver disease

Long, Valynne, Laney, Dawn, Shankar, Suma, Li, Hong

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

236

Comparison between several splicing bioinformatic predictors

de Frutos, Laura López, Alfonso, Pilar, Montesinos, Marta, Giraldo, Pilar

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

237

A clinical case with a new damaging variant associated to Niemann-Pick disease type C

de Frutos, Laura López, Cebolla, Jorge J, Irún, Pilar, Romero, Jesús, Sagrario, María T, del Canto, Clementina, Minguez, Adolfo, Giraldo, Pilar

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

238

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation in Manchester

Lum, Su Han, Ghosh, Arunabha, Stepien, Karolina, Mercer, Jean, Bonney, Denise, Broomfield, Alexander, Jones, Simon, Wynn, Robert

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

239

A 20-year review of the changing pattern of graft failure in cord blood transplant for Hurler syndrome

Lum, Su Han, Miller, Weston, Poulton, Kay, Ghosh, Arunabha, Webster, Helen, Mercer, Jean, Bonney, Denise, Jones, Simon, Orchard, Paul J, Wynn, Robert

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

240

A novel recombinant human acid alpha-glucosidase, ATB200, leads to greater substrate reduction and improvement in Pompe disease-relevant markers compared to alglucosidase alfa in GAA KO mice

Lun, Yi, Xu, Su, Soska, Rebecca, Nair, Anju, Frascella, Michelle, Garcia, Anadina, Gotschall, Russell, Do, Hung, Valenzano, Kenneth J, Khanna, Richie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

241

Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) improves mobility in alpha-mannosidosis patients

Lund, Allan M, Borgwardt, Line, Amraoui, Yasmina, Andersen, Oluf, De Meirleir, Linda, Dolhem, Philippe, Campos, Mercedes Gil, Guffon, Nathalie, Héron, Bénédicte, Jameson, Elisabeth, Jones, Simon A, La

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

242

Triple therapy for MPS IH: intrathecal iduronidase, IV-ERT, and hematopoietic cell transplant

Lund, Troy, Miller, Weston, Polgreen, Linda, Raymond, Gerry, Tolar, Jakub, Orchard, Paul

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

243

VTS-270 for the treatment of Niemann-Pick disease type C

Machielse, Bernardus N, Porter, Forbes D, Yergey, Alfred L, Berry-Kravis, Elizabeth M, Darling, Allan, Rao, Ravi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

244

Fabry disease: renal function during long-term enzyme replacement therapy evaluated by gold standard GFR 51Cr-EDTA clearance

Madsen, Christoffer V, Granqvist, Henrik, Petersen, Jørgen H, Rasmussen, Åse K, Lund, Allan M, Oturai, Peter, Sørensen, Søren S, Feldt-Rasmussen, Ulla

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

245

Identification of psychosine-reducing small molecule agents for Krabbe disease

Jang, Dae Song, Katabuchi, Asaka, Solomon, Melani, Moser, Ann, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

246

Discovery of novel endogenous biomarkers in MPS I

Makino, Elina, Belenky, Alexey, Varban, Mariette Lee, Klodnitsky, Helen, Phaneuf, Clifford, Orchard, Paul, Lund, Troy

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

247

Receptor-independent mechanisms of RTB lectin-mediated ERT delivery provide unique advantages in enzyme uptake capacity, transcytosis, and lysosomal correction

Martin, Reid, Acosta, Walter, Ayala, Jorge, Katta, Varun, Flory, Ashley, Radin, Jonathan, Devaiah, Shivakumar, Cramer, Carole, Radin, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

248

Natural history data from 182 female patients with Fabry disease in Latin America: A Fabry Registry analysis of disease burden

Martins, Ana Maria, Varas, Carmen, Molt, Fernando, Lemay, Roberta, Politei, Juan M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

249

Mutation spectrum and haplotype study of mucopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations

Martins, Carla, de Medeiros, Paula Frassinetti, Leistner-Segal, Sandra, Elcioglu, Nursel, Behnam, Mahdiyeh, Lacerda, Lucia, Lefèbvre, Jean-François, Giugliani, Roberto, Pshezhetsky, Alexey V.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

250

Enzyme activities of six lysosomal diseases in a Japanese neonatal population

Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

251

Validation of the shortened "Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale" (HS-FOCUS) questionnaire

Mattera, Maria, Vernon, Margaret K, Raluy-Callado, Mireia, Mikl, Jaromir

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

252

Relative effectiveness of different routes of AAV administration for gene therapy of mucopolysaccharidosis

Scott McIvor, R., Kozarsky, Karen, Laoharawee, Kanut, Podetz-Pedersen, Kelly M., Kitto, Kelley, Riedl, Maureen, Whitley, Chester B., Vulchanova, Lucy, Fairbanks, Carolyn A, Frey, William H., Low, Walt

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

253

Expansion of the N215S phenotype in Fabry disease: a report of a large family with multi-organ symptoms in young adulthood

McKenna, Casey, Wilson, William

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

254

Impaired phagosome maturation in Gaucher macrophages provides a new target for therapeutic intervention target

McMahon, Benjamin, Aflaki, Elma, Borger, Daniel, Grey, Richard, Kirby, Martha, Anderson, Stacie, Lopez, Grisel, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

255

Health outcomes research study on patients with type 1 Gaucher disease under substrate reduction therapy (SRT)

Engay, Blanca Medrano, Roy, Ana, Atutxa, Koldo, Diaz-Morant, Vicente, Garcia-Frade, Javier, Hernández-Martin, Roberto, Luño, Elisa, Noya, Soledad, de la Serna, Javier, Villalon, Lucia, Giraldo, Pilar

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

256

Pregnancy in a Fabry patient on enzyme replacement therapy, a case report

Medrano-Montes de Oca, Julio C, Avilés-Aguilar, Fidencio, Loyola-Rodríguez, Georgina

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

257

A global Delphi consensus initiative to facilitate early diagnosis of type 1 and type 3 Gaucher disease: what are the phenotypic commonalities?

Mehta, Atul, Salek, Sam, Kuter, David J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

258

Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

Meijer, Olga L, te Brinke, Heleen, Ofman, Rob, IJlst, Lodewijk, van Vlies, Naomi, Wijburg, Frits A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

259

A novel platform to deliver lysosomal enzymes

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

260

Health care resource utilization by patients with Hunter syndrome in the UK hospital episode statistics (HES) database

Mikl, Jaromir, Raiteri, Louise, Jenner, Sarah, Daniels, Flora A, Yu, Eric, Alexanderian, David, Whiteman, David A.H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

261

The challenge of using Hospital Episode Statistics (HES) to identify a Hunter syndrome cohort in the UK

Mikl, Jaromir, King, Eleanor M, Raiteri, Louise, Jenner, Sarah, Daniels, Flora A, Yu, Eric, Whiteman, David A.H., Alexanderian, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

262

The early stages of Fabry disease in an α-galactosidase A-deficient rat model

Miller, James J, Aoki, Kazuhiro, Murphy, Carly A, Stucky, Cheryl L, Kassem, Iris S, Tiemeyer, Michael, Dahms, Nancy M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

263

Post-transplant intravenous laronidase augmentation for Hurler syndrome: anti-drug antibody, biochemical and donor hematopoietic graft response

Miller, Weston P, Lund, Troy C, Sando, Nicole, Tolar, Jakub, Orchard, Paul

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

264

Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease

Mistry, Pramod K, Lukina, Elena, Turkia, Hadhami Ben, Shankar, Suma, Feldman, Hagit Baris, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Lau, Heather, Petakov, Milan, Assouline, Sarit, Balwani, Manish

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 67 KB

english, 2017

265

Scale-up processing of recombinant human glucosamine (n-acetyl)-6-sulfatase for the treatment of mucopolysaccharidosis type IIID

Moen, Derek R, Chen, Mengqing, Kan, Shih-hsin, Steven, Le Q, Wood, Jill, Ekins, Sean, Chou, Tsui-Fen, Dickson, Patricia I

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

266

Pathogenic mutation at IDS gene on a newborn girl with clinical symptoms of Hunter syndrome (MPS II)

Moreno, Lina J, Sanchez, Adalberto, Satizabal, Jose M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

267

Short term impact from enzyme replacement therapy on patients with attenuated Hunter syndrome (MPS II) showing complex heart disease

Moreno, Lina J, Sanchez, Adalberto, Satizábal, José M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

268

Intravenous and intrathecal treatment with HP-β-CD reduced disease biomarkers in a patient with Niemann-Pick disease type C1

Movsesyan, Nina, Wall, Vanessa L., Ory, Daniel S., Wang, Raymond

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

269

Successful cardiovascular surgery experience and enzyme replacement therapy in type 3C Gaucher disease

Mungan, Neslihan, Bulut, Derya, Salih, Orhan, Gulcan, Oner, Deniz, Ali, Erdem, Sevcan, Kor, Deniz, Yılmaz, Berna, Acar, Sebile, Ozbarlas, Nazan

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

270

Association of lysolipids with Gaucher disease - associated and sporadic gammopathies

Nair, Shiny, Sng, Joel, Zhang, Lin, Branagan, Andrew, Liu, Jun, Boddupalli, Chandra Sekhar, Meffre, Eric, Mistry, Pramod, Dhodapkar, Madhav

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

271

Podocyte globotriaosylceramide (GL-3) content strongly impacts age-dependent podocyte loss in ERT-naïve male Fabry patients

Najafian, Behzad, Tondel, Camilla, Svarstad, Einar, Mauer, Michael

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

272

High-risk screening trial of Gaucher disease for patients with neurological symptoms

Nakamura, Kimitoshi, Momosaki, Ken, Yoshida, Shinichiro, Endo, Fumio

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

273

Multiple lysosomal diseases - newborn screening in a Mexican cohort of patients

Navarrete, Juana I

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

274

White matter alterations in mucopolysaccharidosis type I assessed by automated DTI analysis

Nestrasil, Igor, Svatkova, Alena, Pasternak, Ofer, Rudser, Kyle, Bednarik, Petr, Mueller, Bryon, Wakumoto, Amy, Shapiro, Elsa, Whitley, Chester

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

275

Oligosacchariduria profiles by MALDI-TOF mass spectrometry andpost-analytical interpretation using multivariate pattern recognition software

Nickander, Kim K., Gavrilov, Dimitar K., Matern, Dietrich, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Raymond, Kimiyo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

276

Phenotypic severity in MPS IIIA strongly correlates with increase in residual SGSH activity in skin fibroblasts cultured at 30oC

Nijmeijer, Stephanie, Knottnerus, Suzan, Wijburg, Frits, van Vlies, Naomi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

277

Reevaluate current routine histopathologic examinations for Fabry disease- not sensitive enough to identify early globotriaosylceramide accumulation in cardiomyocytes

Niu, Dau-Ming, Chang, Fu-Pang, Hsu, Ming-Jia, Hsu, Chia-Lin, Hsu, Ting-Rong, Chang, Sheng-kai, Lu, Yung-Hsiu

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

278

Withdrawn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

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english, 2017

279

Gene therapy mediated correction of neurological manifestations of MPS IIIC using a novel AAV serotype

O'Leary, Claire, Antunes, Andre, Tordo, Julie, Liao, Ai Yin, Parker, Helen, Gleitz, Helene, Holley, Rebecca, Youshani, Amir Saam, Dridi, Larbi, Martins, Carla, Pshezhetsky, Alexey, Henckearts, Els, Bi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

280

Proteomic analysis of mucopolysaccharidosis type I mouse brain with two-dimensional polyacrylamide gel electrophoresis

Ou, Li, Przybilla, Michael J, Whitley, Chester B

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

281

Glucosylceramide partnership with immunological villain in Gaucher disease

Pandey, Manoj K, Burrow, Thomas A, Rani, Reena, Martin, Lisa J, Magnusen, Albert F, McKay, Mary, Magnusen, Daniel, Witte, David P, Zhang, Wujuan, Setchell, Kenneth D, Köhl, Jörg, Grabowski, Gregory A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

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english, 2017

282

From testimonials to qualitative research embedded in an MPS IIIA observational study

Parker, Samantha, Bekkali, Soraya, Chakrapani, Anupam, Heron, Benedicte, Lavery, Christine, Muschol, Nicole, Roberts, Charlotte, Wijburg, Frits, Arnould, Benoit, Lanar, Sally, Marrel, Alexia, LeMeur,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

283

Taliglucerase alfa and type 1 Gaucher disease: a south Brazilian experience

Paskulin, Livia, Vairo, Filippo, Schwartz, Ida Vanessa D

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

284

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

Pasqualim, Gabriela, Poletto, Édina, Angrezani, Jacques, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

285

What would be the real prevalence & etiopathogeny of chronic liver diseases in patients with type 1 Gaucher disease?

Pedrose, Maria L, Didone, Celso N

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

286

Clinical characteristics of patients with lysosomal diseases in a Spanish cohort of 499 adult patients with inborn errors of metabolism from university hospitals

Pérez-López, Jordi, Ceberio-Hualde, Leticia, García-Morillo, José Salvador, Grau-Junyent, Josep Maria, Hermida-Ameijeiras, Alvaro, López-Rodríguez, Mónica, Milisenda, José César, Moltó-Abad, Marc, Mor

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

287

Modeling CLN6 with patient-derived IPS cells

Pierson, Tyler Mark

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

288

Neurologic improvement in a mouse model of Hunter syndrome (mucopolysaccharidosis type II) by treatment with AAV9 vector after the development of cognitive dysfunction

Podetz-Pedersen, Kelly M, Laoharawee, Kanut, Nguyen, Tam T, Singh, Sajya M, Vulchanova, Lucy, Kozarsky, Karen, Low, Walter C, Scott McIvor, R

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

289

Pilot study of the effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II

Polgreen, Lynda E, Kunin-Batson, Alicia, Rudser, Kyle, Vehe, Richard K, Utz, Jeanine J, Whitley, Chester B, Dickson, Patricia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

290

Chronic intestinal pseudo-obstruction: consider Fabry disease?

Politei, Juan, Durand, Consuelo, Schenone, Andrea B, Thurberg, Beth

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

291

Is joint pain a criteria for ERT indication in adult patients with MPS IVA and VI, even without significant visceral involvement?

Politei, Juan, Durand, Consuelo, Frabasil, Joaquin, Masllorens, Francisca, Schenone, Andrea B

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

292

Dose-dependent response in Fabry treatment: decrement in plasma lyso-Gl3 after switching from alfa to beta

Politei, Juan, Frabasil, Joaquin, Velasquez, Dana, Durand, Consuelo, Schenone, Andrea B

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

293

Novel UPLC-MS/MS oligosaccharide analysis for the diagnosis and monitoring of patients with glycoproteinoses

Pollard, Laura, Huang, Rongrong, Cason, Allison, Cathey, Sara, Wood, Tim

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

294

Aortic root dilatation in patients with mucopolysaccharidoses and the effect of enzyme replacement therapy

Poswar, Fabiano O, Martins, Giselle Renata, Giugliani, Roberto, Baldo, Guilherme

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

295

Long-term stability of I2S, NAGLU, GALNS, ARSB, GUSB and TPP1 enzymes in frozen dried blood spots

Potier, Anna, Cournoyer, Jason, Trometer, Joe, Vranish, Alyssa, DiPerna, James, Lindroos, Hanne, Livshin, Laurie, Schermer, Mack

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

296

Impact of newborn screening on families in the case of Pompe disease

Pruniski, Brianna, Lisi, Emily, Ali, Nadia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

297

Quantification of ganglioside in brain tissue in the murine model of Hurler syndrome

Przybilla, Michael J., Ou, Li, Jiang, Xuntian, Ory, Daniel S., Whitley, Chester B.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

298

Combined deficiencies of endosomal ganglioside neuraminidases 3 and 4 in mice cause lysosomal GM3 gangliosidosis

Pshezhetsky, Alexey, Pan, Xuefang, De Aragão, Camila De Britto Pará, Velasco-Martin, Juan, Priestman, David, Platt, Frances, Lamarche-Vane, Nathalie, Morales, Carlos, Miyagi, Taeko

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

299

Olipudase alfa for the treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30months

Puga, Ana Cristina, Wasserstein, Melissa, Diaz, George, Lachmann, Robin, Jouvin, Marie-Helene, Nandy, Indrani, Ji, Allena, Ingulizian, Haig

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

300

In Sanfilippo syndrome, heparan sulfate hexasaccharides are the most pathogenic fractions involved in glia activation.

Puy, Vincent, Darwiche, Walaa, Bodet, Pierre-Edouard, Lony, Christelle, Gomila, Cathy, Vitry, Sandrine, Gonnet, Florence, Trudel, Stephanie, Daniel, Regis, Ausseil, Jerome

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

301

Genotype-phenotype relationships in Fabry disease: developing an online interactive web-based data collection system

Qin, Cathy, De Silva, Nihara, Mehta, Atul, Ramaswami, Uma, Hughes, Derralynn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

302

Hearing outcomes following hematopoietic stem cell transplantation in Hurler syndrome

Qualls, Hannah, Heck, Madeline, Meyer, Abby

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

303

A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from superficial skin capillary endothelium

Ramaswami, Uma, Wijburg, Frits A, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Haack, Kristina An, Hopkin, Robert J, Mauer, Mi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

304

Non-neuronopathic Gaucher disease: a retrospective review comparing therapeutic outcomes of 2-week and 4-week enzyme replacement therapy

Ramaswami, Uma, Heales, Hannah, Finnegan, Niamh, Mckie, Mark, Hughes, Derralynn, Mehta, Atul

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

305

A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells

Ramaswami, Uma, Wijburg, Frits A, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Haack, Kristina An, Hopkin, Robert J, Mauer, Mi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 55 KB

english, 2017

306

ConnectMPS: the global patient insights network for MPS, ML and related disorders

Miller, Vanessa Rangel, Dant, Mark, Wood, Jill

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

307

Novel LIPA mutations resulting in lysosomal acid lipase deficiency

Reynders, John, Burton, Barbara K., del Angel, Guillermo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 69 KB

english, 2017

308

Newborn screening (NBS) for metachromatic leukodystrophy (MLD): results from a study of 100,000 deidentified NBS samples

Ridsdale, Ross, Kroll, Charles, Sanders, Karen, Olgesbee, Devin, Rinaldo, Piero, Hopwood, John, Lorey, Fred, Gelb, Michael, Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

309

Cell uptake evaluation of human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in Pichia pastoris

Rodríguez-López, Alexander, Cardona, Carolina, Pimentel, Natalia, Espejo-Mojica, Angela J, Alméciga-Diaz, Carlos J.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

310

Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations

Rolfs, Arndt, Oprea, Gabriela, Kramp, Guido, Giese, Anne-Katrin, Zielke, Susanne, Lukas, Jan, Cozma, Claudia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

311

Type 2 Gaucher disease: Where do we go from here?

Roshan Lal, Tamanna R, Weiss, Karin, Monestime, Ginanina, Tayebi, Nahid, Lopez, Grisel, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

312

Early intrathecal gene therapy extends lifespan and improves quality of life in a mouse model for infantile neuronal ceroid lipofuscinosis

Rozenberg, Alejandra J, Gray, Steven J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

313

Expression of the lysosomal membrane protein LMBD1 is essential for the initiation of gastrulation

Rutsch, Frank, Pennekamp, Petra, Nitschke, Yvonne, Lowe, Chrishanthi, Skryabin, Boris, Buers, Insa

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

314

Structural basis of Hunter syndrome and construction of a database of mutant iduronate 2-sulfatase

Sakuraba, Hitoshi, Saito, Seiji, Ohno, Kazuki

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

315

Sphingolipidoses membrane lipids regulate and modify sphingolipid catabolism, its enzymes, lipid binding and transfer proteins

Sandhoff, Konrad

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

316

Characterization on the cellular distribution of enzyme replacement therapy (ERT) under the influence of humoral immune response in MPS I mouse model

Sanghez, Valentina, Kan, Shih-hsin, Le, Steven Q, Clarke, Don, Vondrak, Kristen N, Vera, Moin, Iacovino, Michelina, Sands, Mark, Dickson, Patti

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

317

Caregiver stress, coping behaviors, and support needs in MPS: a survey of parents

Schadewald, Amy, Ou, Li

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

318

Performance evaluation of alpha iduronidase assay in dried blood spots for the diagnosis of mucopolysaccharidosis type I

Schenone, Andrea Beatriz, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Frabasil, Joaquin

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

319

Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study

Schiffmann, Raphael, Bichet, Daniel G., Hughes, Derralynn A., Giugliani, Roberto, Wilcox, William R., Shankar, Suma P., Germain, Dominique P., Viereck, Christopher, Castelli, Jeffrey P., Skuban, Nina,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

320

Is Fabry disease frequently undiagnosed in patients with common heart disease?

Schiffmann, Raphael, Swift, Caren, McNeill, Nathan, Benjamin, Elfrida R, Sweetman, Lawrence, Wang, Xuan, Wu, Xiaoyang

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

321

Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency

Schuchman, Edward H., He, Xingxuan, Dworski, Shaalee, Zhu, Changzhi, DeAngelis, Victor, Solyom, Alex, Levade, Thierry, Medin, Jeffrey A., Simonaro, Calogera M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

322

Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: interim results from an ongoing multicenter, multinational extension study

Schulz, Angela, Specchio, Nicola, Gissen, Paul, de los Reyes, Emily, Cahan, Heather, Slasor, Peter, Ajayi, Temitayo, Jacoby, David

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

323

Characteristics of 27 patients with type 3 Gaucher disease: a descriptive analysis from the Gaucher Outcome Survey

Schwartz, Ida Vanessa D, Goker-Alpan, Ozlem, Kishnani, Priya, Zimran, Ari, Renault, Lydie, Panahloo, Zoya, Deegan, Patrick

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 69 KB

english, 2017

324

Pharmacological intervention of ERAD partially restores the activity of mutant α-galactosidase A in Fabry disease

Seemann, Susanne, Ernst, Mathias, Haake, Linda R., Fuellen, Georg, Rolfs, Arndt, Lukas, Jan

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

325

Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy: an update following extended treatment

Sevin, Caroline, Dali, Christine, Giugliani, Roberto, Riethmüller, Joachim, Troedson, Christopher, Sakai, Norio, Bhargava, Parul, Kerr, Douglas, Wasilewski, Margaret

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

326

Understanding and measuring neurodegeneration in childhood onset lysosomal diseases

Shapiro, Elsa G

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

327

Unrecognized immune thrombocytopenia in patients with Gaucher disease on long term therapy

Sheikh, Rania, Vo, Thao-Chi, Bakhtiar, Zahra, Goker-Alpan, Ozlem, Lau, Heather

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

328

ThinkGenetic: identification of misinformation and educational gaps using an innovative and interactive website

Simmons, Morgan F, Laney, Dawn A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

329

Evaluation of pentosan polysulfate in mucopolysaccharidosis type IIIA mice

Simonaro, Calogera M., Guo, Ningning, DeAngelis, Victor, Tomatsu, Shunji, Schuchman, Edward H.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

330

Improvement of Fabry disease pain with calcium gluconate infusions given at time of agalsidase beta therapy

Smith, Cynthia A

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

331

Please proceed with caution: a case series of the perils and pitfall of making a Fabry diagnosis

Smith, Elizabeth

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

332

Transcytosis alterations in lysosomal diseases

Solomon, Melani A, Moscoso, Ronaldo, Bautista, Ronelle, Muro, Silvia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

333

Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed

Solyom, Alexander, Nwosu, Ekene O, Mitchell, John, Beck, Michael, Hügle, Boris, Tetzl, Dustin, Schuchman, Edward H

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

334

Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural history and phenotypic spectrum of patients, including novel methodologies for assessment of disease-specific symptoms

Solyom, Alexander, Mitchell, John, Beck, Michael, Hügle, Boris, Schuchman, Edward H

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

335

The lived experience of parents of children with mucopolysaccharidosis (MPS)

Somanadhan, Suja, Larkin, Philip J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

336

Correction of central nervous system deficits in the mouse model of Hunter syndrome by recombinant iduronate 2-sulfatase crossing the blood-brain barrier

Sonoda, Hiroyuki, Morimoto, Hideto, Koshimura, Yuri, Kinoshita, Masafumi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

337

Development of an electrochemiluminescent assay to measure LAMP2 in canine cerebrospinal fluid samples

Soon, Russell K, Tripp, Matt, Chandriani, Sanjay, Wait, Jill, Pinkstaff, Jason, Russell, Chris, Ellinwood, Norman Matthew, Pryer, Nancy, Zoog, Stephen, Jesaitis, Lynne, Melton, Andrew

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

338

False positive diagnosis of lysosomal disease with dried blood spot (DBS) sample; leukocyte number as a challenging factor

Sozmen, Eser Y, Dondurmaci, Meral, Ucar, Sema Kalkan, Coker, Mahmut

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

339

Alleviation of a lysosomal disease by a modified bacterial toxin

Spitalny, George, Sibley, Craig, Bronsther, Oscar, Lingwood, Clifford

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

340

Comparison of systemic routes of administration for CLN3 delivery via scAAV9

Kaye Spratt, S., Aldrich, Amy, Padegimas, Linas, Fallet, Rachel W, David, Adam, Miller, Tim, Kielian, Tammy L.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

341

A review of serum lipid profile in patients with mucopolysaccharidoses

Stepien, Karolina M, Stewart, Fiona, Hendriksz, Christian J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

342

Sibling pairs with Gaucher disease discordant for Parkinsonism

Steward, Alta M, Monestime, Gianina, Groden, Catherine, Wiggs, Edythe, Tayebi, Nahid, Lal, Tamanna Roshan, Lopez, Grisel, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

343

Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry

Stockton, David W, Berger, Kenneth I, Boentert, Matthias, Byrne, Barry, Kishnani, Priya S, Llerena, Juan C, Roberts, Mark, Maruti, Sonia, Araujo, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

344

Measuring sulfatide in blood enables newborn screening for metachromatic leukodystrophy (MLD)

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

345

Fabry disease in adult dialysis patients in a community hospital

Symonds, Esteban A, Lee, Sunggeun, Maik, Miri, Baumstein, Donald, Banikazemi, Maryam

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

346

Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease

Taguchi, Yumiko V, Liu, Jun, Ruan, Jiapeng, Pacheco, Joshua, Zhang, Xiaokui, Abbasi, Justin, Keutzer, Joan, Mistry, Pramod K, Chandra, Sreeganga S

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

347

In vitro and in vivo activity of IVA336, a potential substrate reduction therapy, in mucopolysaccharidosis models

Tallandier, Mireille, Entchev, Eugeni, Jacquet, Sébastien, Jantzen, Ingrid, Lacombe, Olivier, Douet, Véronique, Masson, Philippe, Broqua, Pierre, Junien, Jean-Louis, Abitbol, Jean-Louis

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

348

Variable clinical features in patients with Fabry disease

Tapia, Daisy, Hall, Kathy, Alandy-Dy, Jousef, Knight, Margaret, Lombardo, Dawn, Pahl, Madeleine, Kimonis, Virginia

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

349

Intracerebral administration of rAAV2/5hNAGLU vector in children with MPS IIIB: results at 30 months of a phase I/II trial

Tardieu, Marc, Zerah, Michel, Gougeon, Marie-Lise, Ausseil, Jerome, de Bournonville, Stephanie, Husson, Beatrice, Zafeiriou, Dimitrios, Parenti, GianCarlo, Bourget, Philippe, Artaud, Cecile, Poirier,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

350

Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy

Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Heron, Benedicte, Piraud, Monique, Ausseil, Jérome, Zerimech, Farid, Brassier, Anais, De Lonlay, Pascale, Levade, Thierry, Marrett, St

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

351

Implementation of an untargeted liquid chromatography ion mobility-mass spectrometry-based metabolomics method for inherited metabolic diseases investigation

Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Rutledge, Douglas N, Gonzalez, Bruno J, Marrett, Stéphane, Afonso, Carlos, Bekri, Soumeya

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 65 KB

english, 2017

352

Microvesicle-mediated delivery of cystinosin to rabbit cornea

Thoene, Jess G, Mullet, Jodi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

353

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick disease type A): clinicopathologic correlations of a case report and review of the literature

Thurberg, Beth L

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

354

Activities of daily living for patients with Morquio syndrome type A

Tomatsu, Shunji, Sawamoto, Kazuki, Mackenzie, William G., Suzuki, Yasuyuki

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

355

Etiology of mucopolysaccharidoses

Tomatsu, Shunji, Khan, Shaukat, Peracha, Hira, Wiesbauer, Alfred, Orii, Tadao

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

356

From diagnosis to follow-up of Fabry patients receiving enzyme replacement therapy in Japan

Tsukimura, Takahiro, Togawa, Tadayasu, Wakamura, Tomotaro, Kato, Hiroshi, Sakuraba, Hitoshi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

357

Flexible digital microfluidic platform to multiplex various combinations of enzymatic assays for newborn screening of Pompe, mucopolysaccharidosis types I and II, biotinidase deficiency and galactosemia disorders

Ullal, Anirudh, Ng, Rainer, Nuffer, Miriam, Graham, Carrie, Nelson, Lisa, Singh, Rajendra, Pamula, Vamsee

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

358

Infantile gangliosidoses: candidate outcome measures for future treatment trials

Utz, Jeanine, Kim, Sarah, King, Kelly, Ziegler, Richard, Schema, Lynn, Redtree, Evelyn, Whitley, Chester

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

359

The prevalence of lysosome-related diseases in a cohort of undiagnosed patients

Vairo, Filippo, Blackburn, Patrick, Cousin, Margot, Kaiwar, Charu, Boczek, Nicole, Lazaridis, Konstantinos, Babovic-Vuksanovic, Dusica, Klee, Eric

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

360

Regulatory units reconstruction approach identifies candidates for genetic risk of associated HCC in Gaucher disease

Vallejo Ardila, Dora L, De Bastiani, Marco A, Schwartz, Ida Vanessa Doederlein

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

361

Long-term efficacy of alglucosidase alfa in late-onset Pompe disease

van der Ploeg, Ans, Clemens, Paula, Hopkin, Robert J, Kacena, Katherine, Sanson, Bernd-Jan, Laforet, Pascal

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

362

A case study of infantile Pompe: clinical outcomes of early treatment in the first year of life

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

363

A novel α-galactosidase A mutation in Fabry disease

Vural, Corey, Banikazemi, Maryam, Gallagher, Katie, Marrero-Stein, Valerie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

364

Occurrence of adverse bone events in adults and children with Gaucher disease treated with taliglucerase alfa

Wajnrajch, Michael, Hernandez, Betina, Tseng, Li-Jung, Mansfield, Roy, Fernet, Mireille

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

365

New and improved therapy for cystinosis

Waldek, Stephen, Frost, Lisa, Hambleton, Paul A, Anderson, Rosaleen J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

366

Carotid intima-media thickness and arterial stiffness are altered in patients with mucopolysaccharidosis type IVA

Wall, Vanessa, Movsesyan, Nina, Dengel, Donald R, Evanoff, Nicholas G, Garrett, Robert, Christensen, Katherine M, Boylan, Deborah, Braddock, Stephen R, Gan, Qi, Montaño, Adriana M, Wang, Raymond Y

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

367

Improving home infusion follow-up

Walls, Susanne, Rainto, Miia, Kantola, Ilkka

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

368

Different ARSB variants causing mucopolysaccharidosis type VI in dogs

Wang, Ping, Margolis, Carol, Lin, Gloria, Raj, Karthik, Han, Rachel, Berman, Lisa, Foureman, Polly, Sewell, Adrian, Giger, Urs

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

369

Canine GM2-gangliosidosis (Sandhoff disease) caused by a 3 base pair deletion in the HEXB gene

Wang, Ping, Galban, Evelyn, Henthorn, Paula S, Lin, Gloria, Takedai, Teiko, Casal, Margret

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

370

PRX-102 for treating Fabry disease: immunogenicity and PK results from a phase 1-2 study

Warnock, David, Hughes, Derralynn, Boyd, Simeon, Giraldo, Pilar, Gonzalez, Derlis, Holida, Myrl, Goker-Alpan, Ozlem, Maegawa, Gustavo, Atta, Mohamed, Nicholls, Kathy, Schiffmann, Raphael, Tuffaha, Ahm

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

371

The New York pilot newborn screen for lysosomal diseases: 40 month data

Wasserstein, Melissa, Bailey, Sean, Caggana, Michele, Desnick, Robert J, Holzman, Ian, Kelly, Nicole, Kupchik, Gabriel, Martin, Monica, Wasserman, Randi, Yang, Amy, Orsini, Joseph J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

372

Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency

Wasserstein, Melissa, Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Mengel, Eugen, Mistry, Pramod, Schuchman, Edward, McGovern, Margaret

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

373

Genistein: a lysosomal stimulator for treatment of various lysosomal diseases

Wegrzyn, Grzegorz, Pierzynowska, Karolina, Hac, Aleksandra, Gabig-Ciminska, Magdalena, Jakobkiewicz-Banecka, Joanna

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

374

Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry

Weinreb, Neal J, Batista, Julie, Andersson, Hans C, Balwani, Manisha, Andrew Burrow, T., Charrow, Joel, Kaplan, Paige, Khan, Aneal, Kishnani, Priya S, Kolodny, Edwin H, Rosenbloom, Barry E, Ronald Sco

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

375

Lucerastat, an iminosugar for substrate reduction therapy in Fabry disease: preclinical evidence

Welford, Richard W.D., Mühlemann, Andreas, Priestman, David, Garzotti, Marco, Deymier, Caroline, Ertel, Eric A, Iglarz, Marc, Baldoni, Daniela, Platt, Frances M., Probst, Markus R.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

376

Novel mutations for late onset Fabry disease are being identified from newborn screening in the state of Illinois

Widera, Shanna, Corkery, Jill, Charrow, Joel

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

377

Diagnosis of alpha mannosidosis after incidental finding of foamy cells on surgical specimen

Wigby, Kristen, Barea, Jaime, Bird, Lynne, Feigenbaum, Annette, Barshop, Bruce

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

378

Conventional measures of body composition may be less predictive in adult mucopolysaccharidoses patients - a small case series

Wilcox, Gisela, Strauss, Boyd J, Hendriksz, Christian J

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

379

Parkinson disease penetrance in obligate carriers of SMPD1 mutations

Wise, Adina H, Wasserstein, Melissa P, Alcalay, Roy N

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

380

How our approach for Sanfilippo syndrome could be a prototype for industrializing rare disease drug discovery and development

Wood, JIll, Ekins, Sean

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

381

Guided growth surgery for genu valgum in mucopolysaccharidosis type VI

Wood, Michelle, Davison, James E, Cleary, Maureen A, Eastwood, Deborah M

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

382

Adjuvant oral salbutamol in treatment of juvenile Pompe disease: novel outcome assessment tool and initial report one-year efficacy in single case

Wood, Michelle, Gissen, Paul, Davison, James E

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

383

Premedication and dose regimen for a type 1 Gaucher patient with severe ERT intolerance

Woolgar, Kara, Aleck, Kyrieckos, Kinemond, Casandra, Lindstrom, Kristin

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

384

Clinical characterization of variants of uncertain significance discovered through newborn screening for Pompe disease at one referral center

Yang, Amy C, Zeid, Natasha, Estrella, Lissette, Lin, Na, Yu, Chunli, Stevens, Colleen, Orsini, Joseph, Vogel, Beth, Bradley, Sarah, Caggana, Michele, Wasserstein, Melissa

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

385

Identifying unmet needs for patients with Fabry disease through motivational interviewing

Yoon, Kwangchae, Whitley, Chester, Budlong, Holly, Utz, Jeanine

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

386

State-of-the-states: newborn screening for lysosomal diseases

Zarbalian, Guisou, Singh, Sikha, Ojodu, Jelili

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

387

Taliglucerase alfa: safety and efficacy across 6 clinical studies in children and adults with Gaucher disease

Zimran, Ari, Wajnrajch, Michael, Hernandez, Betina, Pastores, Gregory M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

388

Pharmacokinetics, safety, and efficacy of rapid infusions of velaglucerase alfa in adult patients with Gaucher disease

Zimran, Ari, Elstein, Deborah, Arbel, Naama, Becker-Cohen, Michal, Chicco, Gaya

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 52 KB

english, 2017

389

Keyword index

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 95 KB

english, 2017

390

Author Index

Journal:

Molecular Genetics and Metabolism

Year:

2017

File:

PDF, 150 KB

2017

391

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 74 KB

english, 2017

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