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Quoted phrase not found in phrase index: "2,8-dihydroxyadenine crystalluria"
Page 1
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Bollée G, et al. Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. doi: 10.2215/CJN.02320312. Epub 2012 Jun 14. Clin J Am Soc Nephrol. 2012. PMID: 22700886 Review.
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound an …
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexc …
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO. Runolfsdottir HL, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):144-150. doi: 10.1016/j.ymgme.2019.05.015. Epub 2019 May 28. Mol Genet Metab. 2019. PMID: 31378568 Free PMC article.
BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in excessive urinary excretion of the poorly soluble 2,8-dihydroxyadenine (DHA), leading to kidney stones and chronic kid …
BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in …