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.
Wanders
R J
RJ
University of Amsterdam, Department of Pediatrics, The Netherlands.
Romeijn
G J
GJ
Wijburg
F
F
Hennekam
R C
RC
de Jong
J
J
Wevers
R A
RA
Dacremont
G
G
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*
D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase