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Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase

✍ Scribed by Barth, P. G. ;Beemer, F. A. ;Cats, B. P. ;Duran, M. ;Wadman, S. K.


Publisher
Springer-Verlag
Year
1985
Tongue
English
Weight
164 KB
Volume
408
Category
Article
ISSN
0174-7398

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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