Molecular Genetics and Metabolism

1

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

Preisler, Nicolai, Lukacs, Zoltan, Vinge, Lotte, Madsen, Karen Lindhardt, Husu, Edith, Hansen, Regitze Sølling, Duno, Morten, Andersen, Henning, Laub, Michael, Vissing, John

Journal:

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

2

Dysregulation of Npas2 leads to altered metabolic pathways in a murine knockout model

O'Neil, Derek, Mendez-Figueroa, Hector, Mistretta, Toni-Ann, Su, Chunliu, Lane, Robert H., Aagaard, Kjersti M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.78 MB

english, 2013

3

Creatine and guanidinoacetate reference values in a French population

Joncquel-Chevalier Curt, Marie, Cheillan, David, Briand, Gilbert, Salomons, Gajja S., Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Des Portes, Vincent, Cha

Journal:

Molecular Genetics and Metabolism

Year:

2013

File:

PDF, 661 KB

2013

4

Optimal serum phenylalanine for adult patients with phenylketonuria (PKU)

Hanley, William B.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 149 KB

english, 2013

5

Transcriptomic and epigenetic changes in early liver steatosis associated to obesity: Effect of dietary methyl donor supplementation

Cordero, Paul, Campion, Javier, Milagro, Fermin I., Martinez, J. Alfredo

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 758 KB

english, 2013

6

Oxidative stress and Nrf2 signaling in McArdle disease

Kitaoka, Yu, Ogborn, Daniel I., Nilsson, Mats I., Mocellin, Nicholas J., MacNeil, Lauren G., Tarnopolsky, Mark A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 502 KB

english, 2013

7

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Dimopoulou, Aikaterini, Fischer, Björn, Gardeitchik, Thatjana, Schröter, Phillipe, Kayserili, Hülya, Schlack, Claire, Li, Yun, Brum, Jaime Moritz, Barisic, Ingeborg, Castori, Marco, Spaich, Christiane

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

8

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Jung, Sunhee, Tran, Nguyen-Thao B., Gospe, Sidney M., Hahn, Si Houn

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

9

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Weisfeld-Adams, James D., Bender, H. Allison, Miley-Åkerstedt, Anna, Frempong, Tamiesha, Schrager, Nina L., Patel, Keyur, Naidich, Thomas P., Stein, Victoria, Spat, Jessica, Towns, Stephanie, Wasserst

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 296 KB

english, 2013

10

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder

Hernández-Vázquez, A., Wolf, B., Pindolia, K., Ortega-Cuellar, D., Hernández-González, R., Heredia-Antúnez, A., Ibarra-González, I., Velázquez-Arellano, A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 569 KB

english, 2013

11

The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

Bigg, Paul W., Sleeper, Meg M., O'Donnell, Patricia A., Liu, Yuli, Wu, Susan, Casal, Margret L., Haskins, Mark E., Ponder, Katherine P.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.74 MB

english, 2013

12

Iron staining in gammopathy-related crystal-storing histiocytosis: A misleading feature to the differential diagnosis with Gaucher's disease

Miura, Thais Elisa S., Takihi, Irina Yoco, Maekawa, Yumi H., Chauffaille, Maria de Lourdes L.F., Rizzatti, Edgar Gil, Sandes, Alex Freire

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 308 KB

english, 2013

13

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear

Takamura, Ayumi, Sakai, Norio, Shinpoo, Michiko, Noguchi, Atsuko, Takahashi, Tsutomu, Matsuda, Shin, Yamamoto, Masanari, Narita, Aya, Ohno, Kosaku, Ohashi, Toya, Ida, Hiroyuki, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 355 KB

english, 2013

14

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

Helander, Anders, Stödberg, Tommy, Jaeken, Jaak, Matthijs, Gert, Eriksson, Maud, Eggertsen, Gösta

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

15

Abnormal fat distribution in PMM2-CDG

Wolthuis, D.F.G.J., van Asbeck, E.V., Kozicz, T., Morava, E.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 266 KB

english, 2013

16

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia

Lee, Young Mok, Pan, Chi-Jiunn, Koeberl, Dwight D., Mansfield, Brian C., Chou, Janice Y.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 539 KB

english, 2013

17

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Yang, Amy C., Ng, Bobby G., Moore, Steven A., Rush, Jeffrey, Waechter, Charles J., Raymond, Kimiyo M., Willer, Tobias, Campbell, Kevin P., Freeze, Hudson H., Mehta, Lakshmi

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 905 KB

english, 2013

18

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Kasten, Jennifer, Hu, Chuhong, Bhargava, Ragini, Park, Hana, Tai, Denise, Byrne, James A., Marescau, Bart, De Deyn, Peter P., Schlichting, Lisa, Grody, Wayne W., Cederbaum, Stephen D., Lipshutz, Geral

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 903 KB

english, 2013

19

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

Couce, María L., Bóveda, M. Dolores, García-Jimémez, Concepción, Balmaseda, Elena, Vives, Inmaculada, Castiñeiras, Daisy E., Fernández-Marmiesse, Ana, Fraga, José M., Mudd, S. Harvey, Corrales, Fernan

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 182 KB

english, 2013

20

Genomic structure and genetic drift in C57BL/6 congenic metabolic mutant mice

Almodovar, Alvin J.O., Luther, Rita J., Stonebrook, Caron L., Wood, Philip A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 341 KB

english, 2013

21

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 33 KB

english, 2013

22

Imaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

Eicher, John D., Gruen, Jeffrey R.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 752 KB

english, 2013

23

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria

White, Desirée A., Antenor-Dorsey, Jo Ann V., Grange, Dorothy K., Hershey, Tamara, Rutlin, Jerrel, Shimony, Joshua S., McKinstry, Robert C., Christ, Shawn E.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 330 KB

english, 2013

24

Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency

Viau, Krista S., Ernst, Sharon L., Pasquali, Marzia, Botto, Lorenzo D., Hedlund, Gary, Longo, Nicola

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 608 KB

english, 2013

25

The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument

Kanters, Tim A., van der Ploeg, Ans T., Brouwer, Werner B.F., Hakkaart, Leona

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 227 KB

english, 2013

26

Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function

Gaeta, Michele, Barca, Emanuele, Ruggeri, Paolo, Minutoli, Fabio, Rodolico, Carmelo, Mazziotti, Silvio, Milardi, Demetrio, Musumeci, Olimpia, Toscano, Antonio

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

27

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

Bigg, Paul W., Baldo, Guilherme, Sleeper, Meg M., O'Donnell, Patricia A., Bai, Hanqing, Rokkam, Venkata R.P., Liu, Yuli, Wu, Susan, Giugliani, Roberto, Casal, Margret L., Haskins, Mark E., Ponder, Kat

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.87 MB

english, 2013

28

Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase

Ceballos-Picot, Irène, Augé, Franck, Fu, Rong, Olivier-Bandini, Anne, Cahu, Julie, Chabrol, Brigitte, Aral, Bernard, de Martinville, Bérengère, Lecain, Jean-Paul, Jinnah, H.A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 838 KB

english, 2013

29

DYRK1A overexpression decreases plasma lecithin:cholesterol acyltransferase activity and apolipoprotein A-I levels

Tlili, Asma, Noll, Christophe, Middendorp, Sandrine, Duchon, Arnaud, Jouan, Marie, Benabou, Eva, Hérault, Yann, Paul, Jean-Louis, Delabar, Jean-Maurice, Janel, Nathalie

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 815 KB

english, 2013

30

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

Tondo, Mireia, Calpena, Eduardo, Arriola, Gema, Sanz, Paloma, Martorell, Loreto, Ormazabal, Aida, Castejon, Esperanza, Palacin, Manuel, Ugarte, Magdalena, Espinos, Carmen, Perez, Belen, Perez-Dueñas,

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 293 KB

english, 2013

31

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration

Williams, Sarah, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J., Gillingham, Melanie B.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 231 KB

english, 2013

32

Efficacy of Miglustat in Niemann–Pick C disease: A single centre experience

Ginocchio, Virginia Maria, D'Amico, Adele, Bertini, Enrico, Ceravolo, Ferdinando, Dardis, Andrea, Verrigni, Daniela, Bembi, Bruno, Dionisi-Vici, Carlo, Deodato, Federica

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 533 KB

english, 2013

33

Role of PON2 in innate immune response in an acute infection model

Devarajan, Asokan, Bourquard, Noam, Grijalva, Victor R, Gao, Feng, Ganapathy, Ekambaram, Verma, Jitendra, Reddy, Srinivasa T.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1006 KB

english, 2013

34

The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5years and older treated with intravenous idursulfase

Barbier, A.J., Bielefeld, B., Whiteman, D.A.H., Natarajan, M., Pano, A., Amato, D.A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 595 KB

english, 2013

36

Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain

Furujo, Mahoko, Kubo, Toshihide, Kobayashi, Masahisa, Ohashi, Toya

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 725 KB

english, 2013

Volume 110; Issue 3

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

Dysregulation of Npas2 leads to altered metabolic pathways in a murine knockout model

Creatine and guanidinoacetate reference values in a French population

Optimal serum phenylalanine for adult patients with phenylketonuria (PKU)

Transcriptomic and epigenetic changes in early liver steatosis associated to obesity: Effect of dietary methyl donor supplementation

Oxidative stress and Nrf2 signaling in McArdle disease

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder

The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

Iron staining in gammopathy-related crystal-storing histiocytosis: A misleading feature to the differential diagnosis with Gaucher's disease

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

Abnormal fat distribution in PMM2-CDG

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

Genomic structure and genetic drift in C57BL/6 congenic metabolic mutant mice

Editorial Board

Imaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria

Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency

The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument

Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase

DYRK1A overexpression decreases plasma lecithin:cholesterol acyltransferase activity and apolipoprotein A-I levels

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration

Efficacy of Miglustat in Niemann–Pick C disease: A single centre experience

Role of PON2 in innate immune response in an acute infection model

Table of Contents

The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5years and older treated with intravenous idursulfase

Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain