A genetic defect in carnitine transport causing primary carnitine deficiency.
Stanley
C A
CA
Endocrine/Diabetes Division, Children's Hospital, Philadelphia, PA 19104.
Treem
W R
WR
Hale
D E
DE
Coates
P M
PM
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D001692:Biological Transport; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000378:metabolism; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005347:Fibroblasts; D006801:Humans; D006943:Hyperglycemia / Q000150:complications / Q000378:metabolism; D007223:Infant; D007700:Kinetics; D009154:Mutation
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine