Quantitative UPLC–MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifesta...

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Udgivet i:J Chromatogr B Analyt Technol Biomed Life Sci
Main Authors: Thorsteinsdottir, Margret, Thorsteinsdottir, Unnur A., Eiriksson, Finnur F., Runolfsdottir, Hrafnhildur L., Agustsdottir, Inger M.Sch., Oddsdottir, Steinunn, Sigurdsson, Baldur B., Hardarson, Hordur K., Kamble, Nilesh R., Sigurdsson, Snorri Th., Edvardsson, Vidar O., Palsson, Runolfur
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5445224/
https://ncbi.nlm.nih.gov/pubmed/27770717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jchromb.2016.09.018
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