title: Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.
authors.affiliation: University of Pécs, Department of Medical Genetics and Child Development, Hungary.
authors.forename: G
authors.initials: G
authors.lastname: Tóth
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: J
authors.initials: J
authors.lastname: Bene
authors.forename: J J
authors.initials: JJ
authors.lastname: Selhorst
authors.forename: H
authors.initials: H
authors.lastname: Overmars
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: J
authors.initials: J
authors.lastname: Molnár
authors.forename: V
authors.initials: V
authors.lastname: Farkas
authors.forename: B
authors.initials: B
authors.lastname: Melegh
mesh_terms: D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency* / Q000627:therapeutic use*; D002524:Cerebellar Ataxia; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D002331:Carnitine