Title : Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Pub. Date : 2015 Jan

PMID : 25481104






1 Functional Relationships(s)
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1 The normal intracellular purines in the HGprt-deficient fibroblasts were likely due in part to a compensatory increase in purine synthesis, as demonstrated by a significant increase in purinosomes. Purines hypoxanthine phosphoribosyltransferase 1 Homo sapiens