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L-2-Hydroxyglutaric Aciduria: Identification of a Mutant Gene C14Orf160, Localized on Chromosome 14Q22.1
(Oxford Univ Press, 2004)
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid ...