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Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being repor...

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Detalles Bibliográficos
Autores principales: Krishnappa, Pramod, Krishnamoorthy, Venkatesh, Gowda, Kiran Krishne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508439/
https://www.ncbi.nlm.nih.gov/pubmed/28717278
http://dx.doi.org/10.4103/iju.IJU_419_16