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. The ai...

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Autores:

Chavarriaga, Julian
Ocampo Navia, María Isabel
Fakih, Nayib
Silva Herrera, José Miguel

Tipo de recurso:

Article of journal

Fecha de publicación:

2018

Institución:

Pontificia Universidad Javeriana

Repositorio:

Repositorio Universidad Javeriana

Idioma:

eng

OAI Identifier:

oai:repository.javeriana.edu.co:10554/60019

Acceso en línea:

https://www.karger.com/Article/Abstract/494360
http://hdl.handle.net/10554/60019
https://doi.org/10.1159/000494360

Palabra clave:

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hprt1 Deficiency, Partial
Kelley-Seegmiller Syndrome
Urolithiasis

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