Antenatal diagnosis of molybdenum cofactor deficiency.
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.
Gray
R G
RG
Department of Clinical Chemistry, Children's Hospital.
Green
A
A
Basu
S N
SN
Constantine
G
G
Condie
R G
RG
Dorche
C
C
Vianey-Liaud
C
C
Desjacques
P
P
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
D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; C022261:molybdopterin