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- W2063524950 abstract "Clinical and biochemical features in four boys with neurologic dysfunction and excessive uric acid production are reported. Three boys with the Lesch-Nyhan syndrome had about 2% of normal activity of HG-PRTase in red blood cells. On the basis of clinical manifestations and enzyme studies, the fourth patient had a separate biochemical defect. Azathioprine and allopurinol failed to suppress purine biosynthesis in either condition. The children were exquisitely sensitive to the uricogenic effect of 2-ethylamino-1,3,4-thiadiazole. The mother of a boy with Lesch-Nyhan syndrome had marginally increased glycine-14C incorporation into uric acid, with an isotopic pattern intermediate between those observed in the Lesch-Nyhan syndrome and in normals." @default.
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- W2063524950 date "1970-11-01" @default.
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- W2063524950 title "Excessive purine synthesis and neurologic dysfunction in children" @default.
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- W2063524950 doi "https://doi.org/10.1002/art.1780130613" @default.
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