Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.
Taroni
F
F
Divisione di Biochimica e Genetica, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Verderio
E
E
Garavaglia
B
B
Fiorucci
S
S
Finocchiaro
G
G
Uziel
G
G
DiDonato
S
S
D001483:Base Sequence; D009202:Cardiomyopathies / Q000201:enzymology / Q000235:genetics*; D002334:Carnitine O-Palmitoyltransferase / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D015894:Genome, Human; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology / Q000235:genetics*; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics
D012333:RNA, Messenger; D004247:DNA; D002334:Carnitine O-Palmitoyltransferase