Molecular Genetics and Metabolism

1

Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151]

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

Journal:

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

2

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

B. Winchester, D. Bali, O.A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, E. Cupler, M. Deschauer, K. Fumić, M. Jackson, P. Kishnani, L. Lacerda, J. Ledvinová, A. Lugowska, Z. Lukacs, I. Maire, H.

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

3

Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment

Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J. Finegold, William J. Rhead, Robert M. Tanguay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 346 KB

english, 2008

4

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

A. Boichard, L. Venet, T. Naas, A. Boutron, L. Chevret, H. Ogier de Baulny, P. De Lonlay, A. Legrand, P. Nordman, M. Brivet

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 788 KB

english, 2008

5

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Christiane Auray-Blais, Denis Cyr, Aimé Ntwari, Michael L. West, Josanne Cox-Brinkman, Daniel G. Bichet, Dominique P. Germain, Rachel Laframboise, Serge B. Melançon, Tracy Stockley, Joe T.R. Clarke, R

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

6

Low plasma total cholesterol in patients with Huntington’s disease and first-degree relatives

Manolis Markianos, Marios Panas, Nikolaos Kalfakis, Demetrios Vassilopoulos

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

7

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Leandra Jäggi, Marcel R. Zurflüh, Agnes Schuler, Alberto Ponzone, Francesco Porta, Laura Fiori, Marcello Giovannini, René Santer, Georg F. Hoffmann, Hans Ibel, Udo Wendel, Diana Ballhausen, Matthias R

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.20 MB

english, 2008

8

Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty

Amal Afifi, Simon Olpin, Ann Dalton, Nick Bishop, Peter S. Grabowski

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

9

Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse

Shaonin Ji, Yun You, Janos Kerner, Charles L. Hoppel, Trenton R. Schoeb, Wallace S.H. Chick, Doug A. Hamm, J. Daniel Sharer, Philip A. Wood

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 396 KB

english, 2008

10

Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum

Amit R. Rahalkar, Robert A. Hegele

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 208 KB

english, 2008

11

Program and Abstracts for the SIMD Annual Meeting

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 573 KB

english, 2008

12

The function of CLN3P, the Batten disease protein

Dinesh Rakheja, Srinivas B. Narayan, Michael J. Bennett

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

13

Cover 2 / Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 588 KB

english, 2008

14

Abstract Index

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

Volume 93; Issue 3

Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151]

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Low plasma total cholesterol in patients with Huntington’s disease and first-degree relatives

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty

Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse

Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum

Program and Abstracts for the SIMD Annual Meeting

The function of CLN3P, the Batten disease protein

Cover 2 / Ed. Board

Table of Contents

Abstract Index