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Dopamine function in Lesch-Nyhan disease.
Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the...
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Formato: | Texto |
Lenguaje: | English |
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2000
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1637829/ https://www.ncbi.nlm.nih.gov/pubmed/10852837 |