Volume 12

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Molecular Genetics and Metabolism Reports
Volume 12

Molecular Genetics and Metabolism Reports

Volume 12

1

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

Giugliani, R., Harmatz, P., Jones, S.A., Mendelsohn, N.J., Vellodi, A., Qiu, Y., Hendriksz, C.J., Vijayaraghavan, S., Whiteman, D.A.H., Pano, A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 337 KB

english, 2017

2

Combination of Klinefelter syndrome and celiac disease: A case report

Baykan, Ahmed Ramiz

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 217 KB

english, 2017

3

Dietary practices in isovaleric acidemia: A European survey

Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 558 KB

english, 2017

4

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

Hawks, Zoë, Shimony, Joshua, Rutlin, Jerrel, Grange, Dorothy K., Christ, Shawn E., White, Desirée A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 407 KB

english, 2017

5

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation

Berry, Gerard T.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 138 KB

english, 2017

6

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ 10 deficiency

Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 817 KB

english, 2017

7

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

8

Letter to the Editors: Concerning “Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state” by Takashi et al. and Letter to the Editors by Ortolano et al.

Schänzer, Anne, Giese, Kerstin, Viergutz, Lara, Hahn, Andreas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 349 KB

english, 2017

9

Adipose stem cells from obese patients show specific differences in the metabolic regulators vitamin D and Gas5

Pérez, Laura M., de Lucas, Beatriz, Lunyak, Victoria V., Gálvez, Beatriz G.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 603 KB

english, 2017

10

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Stepien, Karolina M., Stewart, Fiona J., Hendriksz, Chris J.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 248 KB

english, 2017

11

Resveratrol attenuates triglyceride accumulation associated with upregulation of Sirt1 and lipoprotein lipase in 3T3-L1 adipocytes

Imamura, Haruki, Nagayama, Daiji, Ishihara, Noriko, Tanaka, Syo, Watanabe, Rena, Watanabe, Yasuhiro, Sato, Yuta, Yamaguchi, Takashi, Ban, Noriko, Kawana, Hidetoshi, Ohira, Masahiro, Endo, Kei, Saiki,

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

12

Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina

Jaurretche, Sebastián, Antogiovanni, Norberto, Perreta, Fernando

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 163 KB

english, 2017

13

Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

Gelb, Michael H., Ronald Scott, C., Turecek, Frantisek, Liao, Hsuan-Chieh

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 168 KB

english, 2017

14

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Barth, Anneliese L., de Magalhães, Tatiana S.P.C., Reis, Ana Beatriz R., de Oliveira, Maria Lucia, Scalco, Fernanda B., Cavalcanti, Nicolette C., Silva, Daniel S. e, Torres, Danielle A., Costa, Alessa

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 717 KB

english, 2017

15

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Azab, Belal, Dardas, Zain, Hamarsheh, Mohannad, Alsalem, Mohammad, Kilani, Zaid, Kilani, Farah, Awidi, Abdalla, Jafar, Hanan, Amr, Sami

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

16

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Br

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 496 KB

english, 2017

17

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

Ha, Christine I., DeArmey, Stephanie, Cope, Heidi, Rairikar, Mugdha, Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 152 KB

english, 2017

18

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Concolino, D., Amico, L., Cappellini, M.D., Cassinerio, E., Conti, M., Donati, M.A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M.B., Nicoletti, A., Nisticò, R., Papadia,

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 181 KB

english, 2017

19

Psychiatric adult-onset of urea cycle disorders: A case-series

Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 265 KB

english, 2017

20

Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”

Millington, David S.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 105 KB

english, 2017

21

Higher oxidative stress in skeletal muscle of McArdle disease patients

Kaczor, Jan J., Robertshaw, Holly A., Tarnopolsky, Mark A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 459 KB

english, 2017

22

Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy

Wu, Chen, Iwamoto, Takeo, Igarashi, Junko, Miyajima, Takashi, Hossain, Mohammad Arif, Yanagisawa, Hiroko, Akiyama, Keiko, Shintaku, Haruo, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 522 KB

english, 2017

23

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 219 KB

english, 2017

24

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

Mashima, Ryuichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 287 KB

english, 2017

25

A compound heterozygote case of isolated sulfite oxidase deficiency

Brumaru, Daniel, Guerin, Eric, Voegeli, Anne-Claire, Eyer, Didier, Maitre, Michel

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

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