Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
Istituto di Clinical Pediatrica, Università di Genova, Italy.
E
E
Bonioli
A
A
DiStefano
A
A
Palmieri
A
A
Bertola
C
C
Bellini
U
U
Caruso
A R
AR
Fantasia
G
G
Minniti
C
C
Dorche
D003067:Coenzymes; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D019271:Hypoxanthine / Q000652:urine; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism; D008667:Metalloproteins / Q000378:metabolism*; D008982:Molybdenum / Q000378:metabolism; D000090006:Molybdenum Cofactors; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency*; D011621:Pteridines / Q000378:metabolism*; D014527:Uric Acid / Q000097:blood / Q000652:urine; D019820:Xanthine; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine
D003067:Coenzymes; D019271:Hypoxanthine; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D014527:Uric Acid; D019820:Xanthine; D014969:Xanthine Oxidase; D014970:Xanthines; C022261:molybdopterin