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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Indian J Urol |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Medknow Publications & Media Pvt Ltd
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5508439/ https://ncbi.nlm.nih.gov/pubmed/28717278 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/iju.IJU_419_16 |
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