[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory].
Heinonen
O J
OJ
Keskuslaboratorio, Turku.
Iitiä
A
A
Irjala
K
K
Pulkki
K
K
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D011379:Prognosis; D016896:Treatment Outcome
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine
Keskipituisten rasvahappojen CoA-dehydrogenaasin puutos--yhteinen diagnostinen haaste kliinikolle ja laboratoriolle.