Molecular Genetics and Metabolism

1

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice

Zimmerman, Heather A., Olson, Kristine C., Chen, Gang, Lynch, Christopher J.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

2

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Matos, I.Vaz, Castejón, E., Meavilla, S., O'Callaghan, M., Garcia-Villoria, J., López-Sala, A., Ribes, A., Artuch, R., Garcia-Cazorla, A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 363 KB

english, 2013

3

Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice

Yew, Nelson S., Dufour, Emmanuelle, Przybylska, Malgorzata, Putelat, Julie, Crawley, Cristin, Foster, Meta, Gentry, Sarah, Reczek, David, Kloss, Alla, Meyzaud, Aurélien, Horand, Françoise, Cheng, Seng

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 518 KB

english, 2013

4

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

Aldámiz-Echevarría, Luis, Bueno, María A., Couce, María L., Lage, Sergio, Dalmau, Jaime, Vitoria, Isidro, Andrade, Fernando, Llarena, Marta, Blasco, Javier, Alcalde, Carlos, Gil, David, García, María

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

5

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

Kawagoe, Shiho, Higuchi, Takashi, Otaka, Manami, Shimada, Yohta, Kobayashi, Hiroshi, Ida, Hiroyuki, Ohashi, Toya, Okano, Hirotaka J., Nakanishi, Mahito, Eto, Yoshikatsu

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 830 KB

english, 2013

6

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

Abacan, M., Boneh, A.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 383 KB

english, 2013

7

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 31 KB

english, 2013

9

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

Kim, Katherine H., Dodsworth, Charlotte, Paras, Andrea, Burton, Barbara K.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 205 KB

english, 2013

10

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

Fyfe, John C., Hemker, Shelby L., Venta, Patrick J., Fitzgerald, Caitlin A., Outerbridge, Catherine A., Myers, Sherry L., Giger, Urs

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 453 KB

english, 2013

11

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect

Dionisi-Vici, Carlo, Martinelli, Diego, Ceravolo, Ferdinando, Boenzi, Sara, Pastore, Anna

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 112 KB

english, 2013

12

Corrigendum to “High prevalence of leptin and melanocotin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families” [Mol. Genet. Metab. 106/1 (2012) 121–126]

Saeed, Sadia, Butt, Taeed A., Anwer, Mehwish, Arslan, Muhammad, Froguel, Philippe

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 89 KB

english, 2013

13

Pain in adult patients with Pompe disease

Güngör, D., Schober, A.K., Kruijshaar, M.E., Plug, I., Karabul, N., Deschauer, M., van Doorn, P.A., van der Ploeg, A.T., Schoser, B., Hanisch, F.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 437 KB

english, 2013

14

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Camp, Kathryn M., Lloyd-Puryear, Michele A., Yao, Lynne, Groft, Stephen C., Parisi, Melissa A., Mulberg, Andrew, Gopal-Srivastava, Rashmi, Cederbaum, Stephen, Enns, Gregory M., Ershow, Abby G., Frazie

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 303 KB

english, 2013

15

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

McNeill, Alisdair, Healy, Daniel G., Schapira, Anthony H.V., Taanman, Jan-Willem

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

16

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

Petrillo, Sara, Piemonte, Fiorella, Pastore, Anna, Tozzi, Giulia, Aiello, Chiara, Pujol, Aurora, Cappa, Marco, Bertini, Enrico

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 386 KB

english, 2013

17

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias

Lichter-Konecki, Uta, Nadkarni, Vinay, Moudgil, Asha, Cook, Noah, Poeschl, Johannes, Meyer, Michael T., Dimmock, David, Baumgart, Stephen

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

18

Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

Oussoren, Esmee, Keulemans, Joke, van Diggelen, Otto P., Oemardien, Linda F., Timmermans, Remco G., van der Ploeg, Ans T., Ruijter, George J.G.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

Volume 109; Issue 4

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

Table of Contents

Editorial Board

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect

Corrigendum to “High prevalence of leptin and melanocotin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families” [Mol. Genet. Metab. 106/1 (2012) 121–126]

Pain in adult patients with Pompe disease

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias

Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients