title: Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation.
authors.affiliation: Department of Clinical Biochemistry, John Radcliffe Hospital, Oxford, U.K.
authors.forename: J M
authors.initials: JM
authors.lastname: Land
authors.forename: S
authors.initials: S
authors.lastname: Mistry
authors.forename: W
authors.initials: W
authors.lastname: Squier
authors.forename: P
authors.initials: P
authors.lastname: Hope
authors.forename: M
authors.initials: M
authors.lastname: Orford
authors.forename: E D
authors.initials: ED
authors.lastname: Saggerson
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008931:Mitochondria, Muscle / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000473:pathology
chemical_list: D002334:Carnitine O-Palmitoyltransferase