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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Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña: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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