Molecular Genetics and Metabolism

1

Expression study of mutant cystathionine β-synthase found in Japanese patients with homocystinuria

Fumio Katsushima, Jana Oliveriusova, Osamu Sakamoto, Toshihiro Ohura, Yoshiaki Kondo, Kazuie Iinuma, Eva Kraus, Renata Stouracova, Jan P. Kraus

Journal:

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

2

Reduced folate carrier polymorphisms and neural tube defect risk

Valerie B. O’Leary, Faith Pangilinan, Christopher Cox, Anne Parle-McDermott, Mary Conley, Anne M. Molloy, Peadar N. Kirke, James L. Mills, Lawrence C. Brody, John M. Scott

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 183 KB

english, 2006

3

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

Célia Nogueira, Dulce Quelhas, Laura Vilarinho

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 66 KB

english, 2006

4

Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia

David A. Weinstein, Catherine E. Correia, Andrew C. Saunders, Joseph I. Wolfsdorf

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

5

NO-cGMP signaling in development and stem cells

Joshua S. Krumenacker, Ferid Murad

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

6

δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations

Reiko Akagi, Noriko Kato, Rikako Inoue, Karl E. Anderson, Eileen K. Jaffe, Shigeru Sassa

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 438 KB

english, 2006

7

PMM2 intronic branch-site mutations in CDG-Ia

Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Pascale De Lonlay, Nathalie Madinier-Chappat, Anne Barnier, Thierry Dupré, Geneviève Durand, Nathalie Seta

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 201 KB

english, 2006

8

Laminopathies: Multisystem dystrophy syndromes

Katherine N. Jacob, Abhimanyu Garg

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 547 KB

english, 2006

9

Mutation screening in Chinese hypokalemic periodic paralysis patients

Weiqing Wang, Lei Jiang, Lei Ye, Na Zhu, Tingwei Su, Liqing Guan, Xiaoying Li, Guang Ning

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 215 KB

english, 2006

10

Serum proteomic signature for cystic fibrosis using an antibody microarray platform

Meera Srivastava, Ofer Eidelman, Catherine Jozwik, Cloud Paweletz, Wei Huang, Pamela L. Zeitlin, Harvey B. Pollard

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 982 KB

english, 2006

11

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

Tomoyuki Awano, Martin L. Katz, Dennis P. O’Brien, Jeremy F. Taylor, Jason Evans, Shahnawaz Khan, Istvan Sohar, Peter Lobel, Gary S. Johnson

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 489 KB

english, 2006

12

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Jakub Gruchota, Ewa Pronicka, Lech Korniszewski, Bartosz Stolarski, Agnieszka Pollak, Małgorzata Rogaszewska, Rafał Płoski

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 141 KB

english, 2006

13

α-l-Iduronidase transport in neurites

Fengtian Chen, Sandrine Vitry, Michaël Hocquemiller, Nathalie Desmaris, Jérôme Ausseil, Jean-Michel Heard

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 802 KB

english, 2006

14

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina

Ana María Oller Ramírez, María D. Ramos, Javier Jiménez, Addy Ghio, Myrna Melano de Botelli, Carlos A. Rezzónico, Inés Marqués, Silvia Pereyro, Teresa Casals, Raquel Dodelson de Kremer

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 324 KB

english, 2006

15

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism

Jun Zhang, C. Melissa Dobson, Xuchu Wu, Jordan Lerner-Ellis, David S. Rosenblatt, Roy A. Gravel

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 381 KB

english, 2006

16

Disorders of ketone production and utilization

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

17

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 155 KB

english, 2006

18

Volume Contents

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 50 KB

english, 2006

20

Author Index

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

Volume 87; Issue 4

Expression study of mutant cystathionine β-synthase found in Japanese patients with homocystinuria

Reduced folate carrier polymorphisms and neural tube defect risk

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia

NO-cGMP signaling in development and stem cells

δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations

PMM2 intronic branch-site mutations in CDG-Ia

Laminopathies: Multisystem dystrophy syndromes

Mutation screening in Chinese hypokalemic periodic paralysis patients

Serum proteomic signature for cystic fibrosis using an antibody microarray platform

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

α-l-Iduronidase transport in neurites

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism

Disorders of ketone production and utilization

Editorial Board

Table of Contents

Volume Contents

Author Index