The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase
Author:
Publisher
Elsevier BV
Subject
General Medicine,Biochemistry
Reference12 articles.
1. l-2-Hydroxyglutaric aciduria: an inborn error of metabolism?;Duran;J. Inherit. Metab. Dis.,1980
2. l-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death;Chen;J. Inherit. Metab. Dis.,1996
3. Cclvi. The oxidation of l(-)α hydroxyglutaric acid in animal tissues;Weil-Malherbe;Biochem. J.,1937
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. l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1;Topcu;Hum. Mol. Genet.,2004
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