title: Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.
authors.affiliation: University of Amsterdam, Department of Clinical Chemistry, The Netherlands. L.IJLST@AMC.UVA.NL
authors.lastname: IJx353L
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: W
authors.initials: W
authors.lastname: Oostheim
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: F
authors.initials: F
authors.lastname: Palmieri
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D009202:Cardiomyopathies / Q000235:genetics; D002333:Carnitine Acyltransferases; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D051381:Rats; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D002352:Carrier Proteins; D005227:Fatty Acids; D026901:Membrane Transport Proteins; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases