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Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis

✍ Scribed by P. Desjacques; B. Mousson; C. Vianey-Liaud; R. Boulieu; C. Bory; P. Baltassat; P. Divry; M. T. Zabot; J. Cotte; P. Lagier; N. Philip


Publisher
Springer
Year
1985
Tongue
English
Weight
276 KB
Volume
8
Category
Article
ISSN
0141-8955

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Report on a new patient with combined de
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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