Molecular Genetics and Metabolism

1

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

Can Ficicioglu, Claire Yager, Stanton Segal

Journal:

Year:

2005

Language:

english

File:

PDF, 302 KB

english, 2005

2

Functional analysis of a new splice site mutation, c.605-3C > A, in the cystinuria gene SLC7A9 leading to exon skipping

Christa Schmidt, Sven Lahme, Klaus Zerres, Thomas Eggermann

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

3

White matter involvement in mitochondrial diseases

Tally Lerman-Sagie, Esther Leshinsky-Silver, Nathan Watemberg, Yehudit Luckman, Dorit Lev

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 727 KB

english, 2005

4

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

Stephan Kemp, Fredoen Valianpour, Simone Denis, Rob Ofman, Robert-Jan Sanders, Petra Mooyer, Peter G. Barth, Ronald J.A. Wanders

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 316 KB

english, 2005

5

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

S. Tortorelli, S.H. Hahn, T.M. Cowan, T.G. Brewster, P. Rinaldo, D. Matern

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

6

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

Lina S. Correa-Cerro, Forbes D. Porter

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.93 MB

english, 2005

7

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

Loryn Sellner, Edward Edkins, Lawrence Greed, Barry Lewis

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 326 KB

english, 2005

8

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Roberto Anitori, Kara Manning, Franklin Quan, Richard G. Weleber, Neil R.M. Buist, Eric A. Shoubridge, Nancy G. Kennaway

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.40 MB

english, 2005

9

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

Ronen Spiegel, Gideon Bach, Vivi Sury, Getu Mengistu, Bela Meidan, Stavit Shalev, Yona Shneor, Hanna Mandel, Marsha Zeigler

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 369 KB

english, 2005

10

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

Jason H. Moore, Erik M. Boczko, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 416 KB

english, 2005

11

IEM digest for february issue

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

12

IFC-Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 35 KB

english, 2005

13

Volume 84; Issue 2

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

Functional analysis of a new splice site mutation, c.605-3C > A, in the cystinuria gene SLC7A9 leading to exon skipping

White matter involvement in mitochondrial diseases

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

IEM digest for february issue

IFC-Ed. Board

Table of Contents