Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
Loupatty
Ference J
FJ
Academic Medical Centre, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Ruiter
Jos P N
JP
IJlst
Lodewijk
L
Duran
Marinus
M
Wanders
Ronald J A
RJ
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
D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase