title: Adult manifestation of L-2-hydroxyglutarate dehydrogenase deficiency by a novel mutation.
authors.affiliation: Department of Neurology, University of the Saarland,Homburg/Saar, Germany. Wolfram.Suehs@uniklinik-saarland.de
authors.forename: K W
authors.initials: KW
authors.lastname: Sühs
authors.forename: P
authors.initials: P
authors.lastname: Erdmann
authors.forename: M G
authors.initials: MG
authors.lastname: Shamdeen
authors.forename: P
authors.initials: P
authors.lastname: Papanagiotou
authors.forename: U
authors.initials: U
authors.lastname: Dillmann
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000178:diet therapy / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D003072:Cognition Disorders / Q000209:etiology; D018450:Disease Progression; D005260:Female; D006801:Humans; D008239:Lysine / Q000008:administration & dosage*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012438:Saccades / Q000235:genetics; D014202:Tremor / Q000209:etiology
chemical_list: D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human; D008239:Lysine