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

Reisz JA, Dzieciatkowska M, Stephenson D, Gamboni F, Morton DH, D'Alessandro A. Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. Antioxidants (Basel). 2023 Aug 31; 12(9).

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