title: Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
authors.affiliation: Department of Child Neurology, University of Göttingen, FRG.
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: D H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: E
authors.initials: E
authors.lastname: Wilichowski
authors.forename: S W
authors.initials: SW
authors.lastname: Eber
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: D
authors.initials: D
authors.lastname: Rating
authors.forename: H
authors.initials: H
authors.lastname: Reichmann
mesh_terms: D002331:Carnitine / Q000172:deficiency*; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000032:analysis; D044943:Fatty Acid Desaturases / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008314:Malonates / Q000097:blood / Q000378:metabolism* / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism; D009132:Muscles / Q000378:metabolism*; D009245:NADH Dehydrogenase / Q000172:deficiency; D010198:Pancytopenia / Q000209:etiology*; D011596:Psychomotor Disorders / Q000209:etiology*
chemical_list: D004272:DNA, Mitochondrial; D008314:Malonates; C038080:ethylmalonic acid; D044943:Fatty Acid Desaturases; D009245:NADH Dehydrogenase; D002331:Carnitine