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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發表在: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
格式: Artigo
語言:Inglês
出版: 2016
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在線閱讀: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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