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Adriana María Gil Zapata, Adriana Castillo Pico, Leonor Gusmão, António Amorim, Fernando Rodríguez Sanabria
Pág. 18 - 21
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural dis...
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