Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review

Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations. The diagnosis of Lesch–Nyhan syndrome (LNS) is frequently delayed until self-mutilation becomes evident. We report the case...

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Bibliografiske detaljer

Principais autores:	Jeng-Dau Tsai, Shan-Ming Chen, Chien-Heng Lin, Min-Sho Ku, Teng-Fu Tsao, Ji-Nan Sheu
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2014-08-01
Serier:	Pediatrics and Neonatology
Fag:	HPRT hyperuricemia Lesch–Nyhan syndrome pulmonary embolism
Online adgang:	http://www.sciencedirect.com/science/article/pii/S1875957212002264
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