A gene encoding a putative FAD-dependent l-2-hydroxyglutarate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria

The purpose of this study was to identify the biochemical and genetic defect in l-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of l-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existen...

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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: Rzem, Rim, Veiga-da-Cunha, Maria, Noël, Gaëtane, Goffette, Sophie, Nassogne, Marie-Cécile, Tabarki, Brahim, Schöller, Christina, Marquardt, Thorsten, Vikkula, Miikka, Van Schaftingen, Emile
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2004
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC534725/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15548604/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0404840101
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