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Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor

✍ Scribed by R. A. Roesel; F. Bowyer; P. R. Blankenship; F. A. Hommes


Publisher
Springer
Year
1986
Tongue
English
Weight
375 KB
Volume
9
Category
Article
ISSN
0141-8955

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A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine com