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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...
Shranjeno v:
| izdano v: | J Endourol Case Rep |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Mary Ann Liebert, Inc.
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5399732/ https://ncbi.nlm.nih.gov/pubmed/28466077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/cren.2017.0015 |
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