title: The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.
authors.affiliation: Department of Clinical Biochemistry, National Hospital for Neurology and Neurosurgery, London, UK. ihargrea@ion.ucl.ac.uk
authors.forename: I P
authors.initials: IP
authors.lastname: Hargreaves
authors.forename: S J
authors.initials: SJ
authors.lastname: Heales
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Ughes
authors.forename: J M
authors.initials: JM
authors.lastname: Land
mesh_terms: D058186:Acute Kidney Injury / Q000150:complications; D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000032:analysis / Q000172:deficiency*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology; D009212:Myoglobinuria
chemical_list: D002334:Carnitine O-Palmitoyltransferase