Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis

Background: Recurrent urolithiasis is troublesome for both patient and clinician, and in most cases, an underlying cause is not found. An important and underdiagnosed cause is adenine phosphoribosyltransferase (APRT) deficiency that gives rise to 2,8-dihydroxyadenine (2,8-DHA) stones. If diagnosed e...

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Detalles Bibliográficos
Autores principales: Jaffer, Ata, Joyce, Adrian, Koenig, Philip, Biyani, Chandra Shekhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc. 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399732/
https://www.ncbi.nlm.nih.gov/pubmed/28466077
http://dx.doi.org/10.1089/cren.2017.0015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399732/
https://www.ncbi.nlm.nih.gov/pubmed/28466077
http://dx.doi.org/10.1089/cren.2017.0015

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