title: Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
authors.affiliation: Academic Medical Centre, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Ference J
authors.initials: FJ
authors.lastname: Loupatty
authors.forename: Jos P N
authors.initials: JP
authors.lastname: Ruiter
authors.forename: Lodewijk
authors.initials: L
authors.lastname: IJlst
authors.forename: Marinus
authors.initials: M
authors.lastname: Duran
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D002478:Cells, Cultured; D002851:Chromatography, High Pressure Liquid; D004796:Clinical Enzyme Tests; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D006836:Hydro-Lyases / Q000032:analysis* / Q000172:deficiency*; D012867:Skin / Q000166:cytology*; D013056:Spectrophotometry, Ultraviolet
chemical_list: D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase