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Publikováno v:
Genetics in Medicine. 2:104
The Lesch-Nyhan (LN) disease is a genetic disorder of purine metabolism caused by defective activity of the enzyme Hypoxanthineguanine PhosphoRibosyl Transferase (HPRT). Affected individuals have a striking phenotype characterized by hyperuricemia an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8cd92189e1a20dafdad8dffd675bc1c
https://doi.org/10.1097/00125817-200001000-00192
https://doi.org/10.1097/00125817-200001000-00192
