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

d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology. Recently, a novel enzyme, d-2-hydroxyglutarate dehydrogenase, which converts d-2-hydroxyglutarate into 2-ketoglutarate, and its gene were identified. In the genes of two unrel...

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Hlavní autoři: Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2005
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196381/
https://ncbi.nlm.nih.gov/pubmed/15609246
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