Molecular Genetics and Metabolism

1

Characterization of two deletions of the CTRC locus

Masson, Emmanuelle, Hammel, Pascal, Garceau, Cécile, Bénech, Caroline, Quéméner-Redon, Sylvia, Chen, Jian-Min, Férec, Claude

Journal:

Year:

2013

Language:

english

File:

PDF, 678 KB

english, 2013

2

The effects of sapropterin on urinary monoamine metabolites in phenylketonuria

Douglas, Teresa D., Jinnah, Hyder A., Bernhard, Douglas, Singh, Rani H.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 578 KB

english, 2013

3

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia

Sultana, Sara, Al-Shawafi, Hiba A., Makita, Saori, Sohda, Miwa, Amizuka, Norio, Takagi, Ritsuo, Oda, Kimimitsu

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 882 KB

english, 2013

4

Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation

Yi, Haiqing, Fredrickson, Keri B., Das, Stuti, Kishnani, Priya S., Sun, Baodong

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 367 KB

english, 2013

5

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings

Laraway, Sarah, Breen, Catherine, Mercer, Jean, Jones, Simon, Wraith, James E.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 288 KB

english, 2013

6

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands

Eijgelshoven, Indra, Demirdas, Serwet, Smith, T. Alexander, van Loon, Jeanni M.T., Latour, Sabine, Bosch, Annet M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 408 KB

english, 2013

7

Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency

Nagasaka, Hironori, Yorifuji, Tohru, Egawa, Hiroto, Inui, Ayano, Fujisawa, Tomoo, Komatsu, Haruki, Tsukahara, Hirokazu, Uemoto, Shinji, Inomata, Yukihiro

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 151 KB

english, 2013

8

Mitochondrial DNA sequence and copy number variants cannot be the only culprit in the pathogenesis of noncompaction

Finsterer, Josef, Stöllberger, Claudia

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 104 KB

english, 2013

10

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Alves, Mariana Q., Le Trionnaire, Emmanuelle, Ribeiro, Isaura, Carpentier, Stéphane, Harzer, Klaus, Levade, Thierry, Ribeiro, M. Gil

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 611 KB

english, 2013

11

Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder

Yasuda, Eriko, Fushimi, Kazunari, Suzuki, Yasuyuki, Shimizu, Katsuji, Takami, Tsuyoshi, Zustin, Jozef, Patel, Pravin, Ruhnke, Kristen, Shimada, Tsutomu, Boyce, Bobbie, Kokas, Terry, Barone, Carol, The

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 5.31 MB

english, 2013

12

Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency

Forni, Sabrina, Pearl, Phillip L., Gibson, K. Michael, Yu, Yuezhou, Sweetman, Lawrence

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 446 KB

english, 2013

13

A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease

Hughes, D.A., Deegan, P.B., Milligan, A., Wright, N., Butler, L.H., Jacobs, A., Mehta, A.B.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 283 KB

english, 2013

14

Predicting parkinsonism: New opportunities from Gaucher disease

Lopez, Grisel, Sidransky, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 122 KB

english, 2013

15

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Stein

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 557 KB

english, 2013

16

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 30 KB

english, 2013

17

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Comeaux, Matthew S., Wang, Jing, Wang, Guoli, Kleppe, Soledad, Zhang, Victor Wei, Schmitt, Eric S., Craigen, William J., Renaud, Deborah, Sun, Qin, Wong, Lee-Jun

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 1.02 MB

english, 2013

Volume 109; Issue 3

Characterization of two deletions of the CTRC locus

The effects of sapropterin on urinary monoamine metabolites in phenylketonuria

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia

Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands

Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency

Table of Contents

Mitochondrial DNA sequence and copy number variants cannot be the only culprit in the pathogenesis of noncompaction

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder

Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency

A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease

Predicting parkinsonism: New opportunities from Gaucher disease

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Editorial Board

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes