Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

• Главные авторы: Julie A. Reisz (Автор), Monika Dzieciatkowska (Автор), Daniel Stephenson (Автор), Fabia Gamboni (Автор), D. Holmes Morton (Автор), Angelo D'Alessandro (Автор)
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• Опубликовано: MDPI AG, 2023-08-01T00:00:00Z.
• Предметы: article
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Lesch-Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). The disease manifests severely, causing intellectual deficits and other neural abnormalities, hypercoagula...