title: Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.
authors.affiliation: University of Amsterdam, Department of Pediatrics, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: G J
authors.initials: GJ
authors.lastname: Romeijn
authors.forename: F
authors.initials: F
authors.lastname: Wijburg
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: J
authors.initials: J
authors.lastname: de Jong
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: G
authors.initials: G
authors.lastname: Dacremont
mesh_terms: D002460:Cell Line; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D003684:Dehydrocholesterols / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010088:Oxidoreductases / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012867:Skin / Q000166:cytology / Q000201:enzymology; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000201:enzymology*
chemical_list: D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase