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

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...

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Detalles Bibliográficos
Autores principales: Reisz, Julie A., Dzieciatkowska, Monika, Stephenson, Daniel, Gamboni, Fabia, Morton, D. Holmes, D’Alessandro, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525117/
https://www.ncbi.nlm.nih.gov/pubmed/37760001
http://dx.doi.org/10.3390/antiox12091699

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