Combined biochemical and molecular diagnosis in blood of a common lipid myopathy.
Vladutiu
G D
GD
Slonim
A E
AE
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000032:analysis* / Q000097:blood / Q000235:genetics*; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase