title: Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.
authors.affiliation: Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: H
authors.initials: H
authors.lastname: Schmalbruch
authors.forename: Z
authors.initials: Z
authors.lastname: Kamieniecka
authors.forename: B
authors.initials: B
authors.lastname: Hertz
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D000143:Acids / Q000652:urine*; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000652:urine; D030401:Cytochrome-c Oxidase Deficiency; D004827:Epilepsy / Q000378:metabolism; D006801:Humans; D007223:Infant; D007700:Kinetics; D008297:Male; D009132:Muscles / Q000201:enzymology*; D019814:Myristic Acid; D009227:Myristic Acids / Q000378:metabolism; D010084:Oxidation-Reduction
chemical_list: D000143:Acids; D009227:Myristic Acids; D019814:Myristic Acid; D044944:Acyl-CoA Dehydrogenases; D002331:Carnitine