Citrullinaemia and isolated sulphite oxidase deficiency in two siblings.
Instituto de Genética Médica, Porto, Portugal.
L
L
Vilarinho
J R
JR
Alves
C
C
Dorche
B
B
Chadefaux
P
P
Parvy
D001124:Argininosuccinate Synthase / Q000172:deficiency; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood*; D005260:Female; D006801:Humans; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*
D002956:Citrulline; D050862:Oxidoreductases Acting on Sulfur Group Donors; D001124:Argininosuccinate Synthase