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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Bibliografiset tiedot
Julkaisussa:J Chromatogr B Analyt Technol Biomed Life Sci
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
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Article
Linkit: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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