title: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
authors.affiliation: Academic Medical Centre, University Hospital Amsterdam, Department of Pediatric, The Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
authors.forename: S
authors.initials: S
authors.lastname: Uskikubo
authors.forename: T
authors.initials: T
authors.lastname: Kamijo
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: J B
authors.initials: JB
authors.lastname: de Klerk
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D000293:Adolescent; D001483:Base Sequence; D002478:Cells, Cultured; D004746:Enoyl-CoA Hydratase / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006720:Homozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism; D063991:Mitochondrial Trifunctional Protein; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000378:metabolism; D009154:Mutation; D010641:Phenotype
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D000102:Acetyl-CoA C-Acyltransferase; D063991:Mitochondrial Trifunctional Protein; D004746:Enoyl-CoA Hydratase