Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria-Reference-Cited by-同舟云学术

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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Published:2005-02 Issue:2 Volume:76 Page:358-360
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Struys Eduard A.,Salomons Gajja S.,Achouri Younes,Van Schaftingen Emile,Grosso Salvatore,Craigen William J.,Verhoeven Nanda M.,Jakobs Cornelis

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. Identification of a dehydrogenase acting on d-2-hydroxyglutarate;Achouri;Biochem J,2004

2. d-2-hydroxyglutaric aciduria: case report and biochemical studies;Chalmers;J Inherit Metab Dis,1980

3. d-2-hydroxyglutaric acidemia in a newborn with neurological abnormalities: a new neurometabolic disorder;Gibson;J Inherit Metab Dis,1993

4. A gene encoding a putative FAD-dependent l-2-hydroxyglutarate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria;Rzem;Proc Natl Acad Sci USA,2004

5. Disease-related metabolites in culture medium of fibroblasts from patients with d-2-hydroxyglutaric aciduria, l-2-hydroxyglutaric aciduria, and d/l-2-hydroxyglutaric aciduria;Struys;Clin Chem,2003

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