Molecular Genetics and Metabolism

1

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

Teruo Kitagawa, Nobuyuki Ishige, Ken Suzuki, Misao Owada, Toya Ohashi, Masahisa Kobayashi, Yoshikatsu Eto, Akemi Tanaka, Kevin Mills, Bryan Winchester, Joan Keutzer

Journal:

Year:

2005

Language:

english

File:

PDF, 324 KB

english, 2005

2

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association

Valerie B. O’Leary, James L. Mills, Faith Pangilinan, Peadar N. Kirke, Christopher Cox, Mary Conley, Andrea Weiler, Kun Peng, Barry Shane, John M. Scott, Anne Parle-McDermott, Anne M. Molloy, Lawrence

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 252 KB

english, 2005

3

Characterization of phytanic acid ω-hydroxylation in human liver microsomes

J.C. Komen, M. Duran, R.J.A. Wanders

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 294 KB

english, 2005

4

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

Doug A. Brooks, Gary J. Gibson, Litsa Karageorgos, Leanne K. Hein, Evelyn F. Robertson, John J. Hopwood

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

5

Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

M.L. Cardoso, A. Balreira, E. Martins, L. Nunes, A. Cabral, M. Marques, M. Reis Lima, J.S. Marques, A. Medeira, I. Cordeiro, S. Pedro, M.C. Mota, C. Dionisi-Vici, F.M. Santorelli, C. Jakobs, P.T. Clay

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 537 KB

english, 2005

6

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease

Paul J. Isackson, Mark Tarnopolsky, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 410 KB

english, 2005

7

d-Amino acids in the central nervous system in health and disease

Sabine A. Fuchs, Ruud Berger, Leo W.J. Klomp, Tom J. de Koning

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 549 KB

english, 2005

8

Over-expression of human lysosomal α-mannosidase in mouse embryonic stem cells

A.J. Robinson, A.C. Crawley, J.J. Hopwood

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.03 MB

english, 2005

9

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro

Hoai Thu Thi Tran, Yasuhiro Takeshima, Agus Surono, Mariko Yagi, Hiroko Wada, Masafumi Matsuo

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 592 KB

english, 2005

10

Short-term, high dose enzyme replacement therapy in sialidosis mice

Dongning Wang, Erik J. Bonten, Gouri Yogalingam, Linda Mann, Alessandra d’Azzo

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.96 MB

english, 2005

11

IEM Digest

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 167 KB

english, 2005

12

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 305 KB

english, 2005

13

Volume 85; Issue 3

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association

Characterization of phytanic acid ω-hydroxylation in human liver microsomes

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease

d-Amino acids in the central nervous system in health and disease

Over-expression of human lysosomal α-mannosidase in mouse embryonic stem cells

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro

Short-term, high dose enzyme replacement therapy in sialidosis mice

IEM Digest

Editorial Board

Table of Contents