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July 15, 1965New England Journal of Medicine102 citations

Hereditary Choreoathetosis, Self-Mutilation and Hyperuricemia in Young Males

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DHD. HoefnagelEAE. AndrewNMNorman G. Mireault

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Abstract

IN 1964 Lesch and Nyhan1 described a syndrome in 2 young brothers, characterized by a nervous-system disorder dating from early infancy, a behavioral abnormality manifested by self-mutilation and a consistent elevation of the levels of uric acid in blood and urine. Single cases conforming to this syndrome had previously been reported by Catel and Schmidt2 and Riley,3 and, since the paper of Lesch and Nyhan, another report of the syndrome in a young boy has appeared.4 The present paper is concerned with a description of clinical, biochemical and genetic features in 2 further families with boys suffering from this syndrome. . . .

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Hoefnagel et al. (1965) studied this question.

synapsesocial.com/papers/6a1d2be728423f2ce504d9b5https://doi.org/10.1056/nejm196507152730303
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