title: A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
authors.affiliation: Beatrix Children's Hospital, University of Groningen, The Netherlands.
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: D J
authors.initials: DJ
authors.lastname: Reijngoud
authors.forename: H S
authors.initials: HS
authors.lastname: Heymans
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D002210:Caprylates / Q000032:analysis / Q000378:metabolism; D009202:Cardiomyopathies / Q000209:etiology*; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000032:analysis / Q000378:metabolism; D002478:Cells, Cultured; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D010084:Oxidation-Reduction; D010168:Palmitates / Q000032:analysis / Q000378:metabolism
chemical_list: D002210:Caprylates; D010168:Palmitates; D002333:Carnitine Acyltransferases; D002334:Carnitine O-Palmitoyltransferase