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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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2024-01-01T00:00:00Z.
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