title: Antenatal diagnosis of molybdenum cofactor deficiency.
abstract: Analysis of uncultured chorionic villus material from a woman at risk of fetus with sulfite oxidase deficiency revealed a deficiency of sulfite oxidase. This was confirmed on termination of the pregnancy.
authors.affiliation: Department of Clinical Chemistry, Children's Hospital.
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: S N
authors.initials: SN
authors.lastname: Basu
authors.forename: G
authors.initials: G
authors.lastname: Constantine
authors.forename: R G
authors.initials: RG
authors.lastname: Condie
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Liaud
authors.forename: P
authors.initials: P
authors.lastname: Desjacques
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D003067:Coenzymes / Q000172:deficiency*; D005260:Female; D006801:Humans; D008667:Metalloproteins; D008982:Molybdenum / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011621:Pteridines
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; C022261:molybdopterin