Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

Case report 3

Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky · Skeletal Radiology · 1976 · 4.1K citations

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

Rzem Rim, Maria Veiga‐da‐Cunha, S. Goffette et al. · Proceedings of the National Academy of Sciences · 2004 · 194 citations · Full text

Life Sciences, Biochemistry, Genetics +13

<scp>l</scp>‐2‐Hydroxyglutaric aciduria, a defect of metabolite repair

Marie‐Françoise Vincent, Emile Van Schaftingen, Maria Veiga‐da‐Cunha · Journal of Inherited Metabolic Disease · 2007 · 151 citations

Life Sciences, Biochemistry, Molecular Medicine +7

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

Meral Topçu, Florence Jobard, Sophie Halliez et al. · Human Molecular Genetics · 2004 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

Emile Van Schaftingen, Maria Veiga‐da‐Cunha · Biochimie · 2005 · 67 citations

Life Sciences, Genetics, Molecular Genetics +8