The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.
Hargreaves
I P
IP
Department of Clinical Biochemistry, National Hospital for Neurology and Neurosurgery, London, UK. ihargrea@ion.ucl.ac.uk
Heales
S J
SJ
Olpin
S E
SE
Morgan-Ughes
J A
JA
Land
J M
JM
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
D002334:Carnitine O-Palmitoyltransferase