title: Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
authors.affiliation: University of Amsterdam, Department of Clinical Chemistry, The Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: IJlst
authors.forename: W
authors.initials: W
authors.lastname: Oostheim
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D003062:Codon; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000378:metabolism; D009154:Mutation; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid
chemical_list: D003062:Codon; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063991:Mitochondrial Trifunctional Protein