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Syndrome de Lesch-Nyhan

✍ Scribed by A. M. Hagemeijer; P. Dodinval; J. M. Andrien

Publisher
Springer
Year
1972
Tongue
English
Weight
693 KB
Volume
15
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

The Lesch-Nyhan syndrome
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Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenin

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De$ciency of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) in humans leads to the neurological disorder, Lesch-Nyhan syndrome. HPRTcDNA sequences have been used to demonstrate a heterogeneous group of mutations causing this disorder, one of which is clearly a new mutation. HPRT ex

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## Communicated by Uta Fruncke Heteroduplex detection by hydrolink gel electrophoresis was performed to screen for small mutations in 12 Lesch-Nyhan syndrome families with characterised molecular pathology which included nine point mutations, two small deletions, and a 1-bp insertion. This modifie