"Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?"

"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, hyperuricosuria, gout arthritis, and urolithiasis....

Descripción completa

Detalles Bibliográficos
Autores Principales: Chavarriaga J., Ocampo M., Fakih N., Silva Herrera J.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: S. Karger AG 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23441
https://doi.org/10.1159/000494360