title: A genetic defect in carnitine transport causing primary carnitine deficiency.
authors.affiliation: Endocrine/Diabetes Division, Children's Hospital, Philadelphia, PA 19104.
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: W R
authors.initials: WR
authors.lastname: Treem
authors.forename: D E
authors.initials: DE
authors.lastname: Hale
authors.forename: P M
authors.initials: PM
authors.lastname: Coates
mesh_terms: 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
chemical_list: D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine