Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia (HRH). The objective of this study was...

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Auteurs principaux:	Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer
Format:	Artigo
Langue:	Inglês
Publié:	Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2021-03-01
Collection:	Journal of Inborn Errors of Metabolism and Screening
Sujets:	Hypoxanthine-guanine phosphoribosyltransferase deficiency hyperuricemia Lesch-Nyhan disease Lesch-Nyhan variant HPRT1 mutation
Accès en ligne:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304&tlng=en
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