Molecular Genetics and Metabolism

1

Experience over fifteen years with a protocol for predictive testing for Huntington disease

Suzanne Dufrasne, Madeleine Roy, Maria Galvez, David S. Rosenblatt

Journal:

Year:

2011

Language:

english

File:

PDF, 263 KB

english, 2011

2

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

Louis J. Elsas, Josephine Greto, Andrea Wierenga

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 241 KB

english, 2011

3

Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening

Takuma Yamamoto, Hidekazu Tanaka, Hironori Kobayashi, Ko Okamura, Tatsuya Tanaka, Yuko Emoto, Kana Sugimoto, Masato Nakatome, Norio Sakai, Hisanaga Kuroki, Seiji Yamaguchi, Ryoji Matoba

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 945 KB

english, 2011

4

Identification and characterization of new long chain Acyl-CoA dehydrogenases

Miao He, Zhengtong Pei, Al-Walid Mohsen, Paul Watkins, Geoffrey Murdoch, Paul P. Van Veldhoven, Regina Ensenauer, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 2.08 MB

english, 2011

5

A novel mutation of RPGR gene in an X-Linked Chinese family with retinitis pigmentosa

Ningdong Li, Shuzhen Dai, Liling Zhang, Han Mei, Liming Wang

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 693 KB

english, 2011

6

Transient fulminant liver failure as an initial presentation in citrullinemia type I

Hannaneh Faghfoury, Julian Baruteau, Helene Ogier de Baulny, Johannes Häberle, Andreas Schulze

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

7

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly

Emily F. Kauvar, Ping Hu, Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Amalia Dutra, Evgenia Pak, Brooke Blessing, Virginia Proud, Alan L. Shanske, Cathy A. Stevens, Jill A. Rosenfeld, Lisa G. Shaff

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.20 MB

english, 2011

8

GCKR mutations in Japanese families with clustered type 2 diabetes

Daisuke Tanaka, Kazuaki Nagashima, Mayumi Sasaki, Chizumi Yamada, Shogo Funakoshi, Kimiyo Akitomo, Katsunobu Takenaka, Kouji Harada, Akio Koizumi, Nobuya Inagaki

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 647 KB

english, 2011

9

A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population

Ana Isabel Mendes, Mário Rui Mascarenhas, Sónia Matos, Inês Sousa, Joana Ferreira, Ana Paula Barbosa, Manuel Bicho, Peter Jordan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 252 KB

english, 2011

10

Investigation of LRP8 gene in 1p31 QTL linked to LDL peak particle diameter in the Quebec family study

G. Dolley, B. Lamarche, J.P. Després, C. Bouchard, L. Pérusse, M.C. Vohl

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 295 KB

english, 2011

11

The macrophage Ox-LDL receptor, CD36 and its association with type II diabetes mellitus

Sunaina Gautam, Monisha Banerjee

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 680 KB

english, 2011

12

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

I. Mazen, M. El-Gammal, M. Abdel-Hamid, I.S. Farooqi, K. Amr

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 439 KB

english, 2011

13

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

Y.H. Xu, Y. Sun, H. Ran, B. Quinn, D. Witte, G.A. Grabowski

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 3.13 MB

english, 2011

14

Thymidylate synthase gene polymorphisms and markers of DNA methylation capacity

Vikki Ho, Thomas E. Massey, Will D. King

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 218 KB

english, 2011

15

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Blanka Stiburkova, Kimiyoshi Ichida, Ivan Sebesta

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 607 KB

english, 2011

16

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

Isabelle R. Miousse, David Watkins, David S. Rosenblatt

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

17

Lysosomal enzyme activities in phenylketonuria

Francesco Porta, S. Pagliardini, V. Pagliardini, Anna Dotta, Alessandro Mussa, Marco Spada

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 105 KB

english, 2011

18

Editorial Board

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 32 KB

english, 2011

19

Volume 102; Issue 4

Experience over fifteen years with a protocol for predictive testing for Huntington disease

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening

Identification and characterization of new long chain Acyl-CoA dehydrogenases

A novel mutation of RPGR gene in an X-Linked Chinese family with retinitis pigmentosa

Transient fulminant liver failure as an initial presentation in citrullinemia type I

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly

GCKR mutations in Japanese families with clustered type 2 diabetes

A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population

Investigation of LRP8 gene in 1p31 QTL linked to LDL peak particle diameter in the Quebec family study

The macrophage Ox-LDL receptor, CD36 and its association with type II diabetes mellitus

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

Thymidylate synthase gene polymorphisms and markers of DNA methylation capacity

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

Lysosomal enzyme activities in phenylketonuria

Editorial Board

Table of Contents