Report on a new patient with combined de
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W. Endres; Y. S. Shin; R. GΓΌnther; H. Ibel; M. Duran; S. K. Wadman
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Article
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1988
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Springer
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English
β 796 KB
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