| dc.contributor.author | Chavarriaga Soto, Julián Andrés | |
| dc.contributor.author | Ocampo Navia, María Isabel | |
| dc.contributor.author | Fakih Garcia, Nayib Omar | |
| dc.contributor.author | Silva Herrera, José Miguel | |
| dc.date.accessioned | 2022-05-31T17:11:26Z | |
| dc.date.accessioned | 2023-05-11T21:29:12Z | |
| dc.date.available | 2022-05-31T17:11:26Z | |
| dc.date.available | 2023-05-11T21:29:12Z | |
| dc.date.created | 2018 | |
| dc.identifier | https://www.karger.com/Article/Abstract/494360 | spa |
| dc.identifier.issn | 0042-1138 | spa |
| dc.identifier.uri | https://hdl.handle.net/20.500.12032/119389 | |
| dc.description.abstract | Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosu | spa |
| dc.format | PDF | spa |
| dc.format.mimetype | application/pdf | spa |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | * |
| dc.subject | Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency | spa |
| dc.subject | Partial | spa |
| dc.subject | Hprt1 Deficiency | spa |
| dc.subject | Partial | spa |
| dc.subject | Kelley-Seegmiller Syndrome | spa |
| dc.subject | Urolithiasis | spa |
| dc.title | Kelley-seegmiller syndrome : urolithiasis, renal uric acid deposits, and gout : What is the role of the urologist? | |
