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

• मुख्य लेखकों: Julie A. Reisz (लेखक), Monika Dzieciatkowska (लेखक), Daniel Stephenson (लेखक), Fabia Gamboni (लेखक), D. Holmes Morton (लेखक), Angelo D'Alessandro (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2023-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...