D-2-hydroxyglutaric aciduria (D2HGA) type II is certainly a uncommon neurometabolic disorder
D-2-hydroxyglutaric aciduria (D2HGA) type II is certainly a uncommon neurometabolic disorder due to germline gain-of-function mutations in isocitrate dehydrogenase 2 (mutation in the indigenous chromosomal locus. content (doi:10.1007/s10545-016-9960-y) contains supplementary materials, which is open to certified users. Intro D-2-hydroxyglutaric aciduria (D2HGA) is definitely a uncommon, inborn, neurometabolic disorder with two genetically unique types (Kranendijk et … [Read more…]