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Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series

We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones. The objective of this study was to examine the accuracy of stone analysis for identification of DHA. Me...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Urolithiasis
Päätekijät: Runolfsdottir, Hrafnhildur L., Lin, Tzu-Ling, Goldfarb, David S., Sayer, John A., Michael, Mini, Ketteridge, David, Rich, Peter R., Edvardsson, Vidar O., Palsson, Runolfur
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7395965/
https://ncbi.nlm.nih.gov/pubmed/32399606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00240-020-01187-6
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