Molecular Genetics and Metabolism

1

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

Xue Yang, Osamu Sakamoto, Yoichi Matsubara, Shigeo Kure, Yoichi Suzuki, Yoko Aoki, Yasuyuki Suzuki, Nobuo Sakura, Masaki Takayanagi, Kazuie Iinuma, Toshihiro Ohura

Journal:

Year:

2004

Language:

english

File:

PDF, 809 KB

english, 2004

2

Molecular screening of the human glutamine–fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy

Steven C. Elbein, Hailing Zheng, Yiwen Jia, Winston Chu, Judith J. Cooper, Terri Hale, Zhengxian Zhang

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 406 KB

english, 2004

3

Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA

Peter S Savas, Kim M Hemsley, John J Hopwood

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 2.71 MB

english, 2004

4

Functional properties of a recombinant chimeric plasminogen activator with platelet-targeted fibrinolytic and anticoagulant potential

Leiliang Zhang, Jing Wang, Meimin Yu, Binggen Ru

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 816 KB

english, 2004

5

Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase

Paul S Berger, Philip A Wood

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 292 KB

english, 2004

6

Plasma concentrations of apolipoprotein B are modulated by a gene–diet interaction effect between the LFABP T94A polymorphism and dietary fat intake in French-Canadian men

J. Robitaille, C. Brouillette, S. Lemieux, L. Pérusse, D. Gaudet, M.C. Vohl

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 395 KB

english, 2004

7

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

M.L Cardoso, M.R Rodrigues, E Leão, E Martins, L Diogo, E Rodrigues, P Garcia, M.O Rolland, L Vilarinho

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 828 KB

english, 2004

8

Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB

Yi Zheng, Sergey Ryazantsev, Kazuhiro Ohmi, Hui-Zhi Zhao, Nora Rozengurt, Donald B Kohn, Elizabeth F Neufeld

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 2.64 MB

english, 2004

9

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Orna Tighe, Jonathon M Flanagan, Fiona Kernan, Charles O'Neill, Eileen Naughten, Philip D Mayne, David T Croke

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 168 KB

english, 2004

10

Expression of a NOS transgene in dystrophin-deficient muscle reduces muscle membrane damage without increasing the expression of membrane-associated cytoskeletal proteins

James G Tidball, Michelle Wehling-Henricks

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 1.37 MB

english, 2004

11

A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes

André F. Reis, Danièle Dubois-Laforgue, Christine Bellanné-Chantelot, José Timsit, Gilberto Velho

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 274 KB

english, 2004

12

By-Laws: The society for inherited metabolic disorders

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 99 KB

english, 2004

13

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 294 KB

english, 2004

14

Volume Index

Journal:

Molecular Genetics and Metabolism

Year:

2004

File:

PDF, 65 KB

2004

16

Volume Contents

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 59 KB

english, 2004

Volume 82; Issue 4

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B12-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

Molecular screening of the human glutamine–fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy

Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA

Functional properties of a recombinant chimeric plasminogen activator with platelet-targeted fibrinolytic and anticoagulant potential

Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase

Plasma concentrations of apolipoprotein B are modulated by a gene–diet interaction effect between the LFABP T94A polymorphism and dietary fat intake in French-Canadian men

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Expression of a NOS transgene in dystrophin-deficient muscle reduces muscle membrane damage without increasing the expression of membrane-associated cytoskeletal proteins

A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes

By-Laws: The society for inherited metabolic disorders

Editorial Board

Table of Contents

Volume Index

Volume Contents