A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts

Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this deficiency, there is an acceleration of the de novo p...

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Váldodahkkit: Paula Escudero-Ferruz (Dahkki), Neus Ontiveros (Dahkki), Claudia Cano-Estrada (Dahkki), Diane J. Sutcliffe (Dahkki), H. A. Jinnah (Dahkki), Rosa J. Torres (Dahkki), José M. López (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: BMC, 2024-01-01T00:00:00Z.
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