A new case of isolated sulphite oxidase deficiency with rapid fatal outcome.
Vianey-Liaud
C
C
Laboratoire de Biochimie M. Mathieu, Hôpital Debrousse, Lyon, France.
Desjacques
P
P
Gaulme
J
J
Dorche
C
C
Vanlieferinghen
P
P
Dechelotte
P
P
Divry
P
P
D003545:Cysteine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D003553:Cystine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D013447:Sulfites / Q000652:urine; D013654:Taurine / Q000097:blood / Q000652:urine; D014969:Xanthine Oxidase / Q000378:metabolism
D013447:Sulfites; D013654:Taurine; D003553:Cystine; C011119:S-sulphocysteine; D010088:Oxidoreductases; D014969:Xanthine Oxidase; D050862:Oxidoreductases Acting on Sulfur Group Donors; D003545:Cysteine