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The identification of 2,8-dihydroxyadenine, a new component of urinary stones.
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[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].
C R Acad Hebd Seances Acad Sci D. 1974 Sep;279(10):883-6.
3
Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
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[Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)].
Nihon Hinyokika Gakkai Zasshi. 1980;71(3):283-8. doi: 10.5980/jpnjurol1928.71.3_283.
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Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
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Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase.
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Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
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2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
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9
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)].
Nouv Presse Med. 1980 Jun 7;9(25):1767-70.
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Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
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Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.
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2,8-Dihydroxyadeninuria-induced progressive renal failure.
NDT Plus. 2008 Dec;1(6):437-439. doi: 10.1093/ndtplus/sfn110. Epub 2008 Aug 8.
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Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis.
J Endourol Case Rep. 2017 Apr 1;3(1):49-51. doi: 10.1089/cren.2017.0015. eCollection 2017.
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Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey.
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Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
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Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102.
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APT1, but not APT2, codes for a functional adenine phosphoribosyltransferase in Saccharomyces cerevisiae.
J Bacteriol. 1999 Jan;181(1):347-52. doi: 10.1128/JB.181.1.347-352.1999.
8
Gout, uric acid and purine metabolism in paediatric nephrology.
Pediatr Nephrol. 1993 Feb;7(1):105-18. doi: 10.1007/BF00861588.
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A multiple technique approach to the analysis of urinary calculi.
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Renal failure due to 2,8-dihydroxyadenine urolithiasis.
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本文引用的文献
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8-Hydroxyadenine as the intermediate in the oxidation of adenine to 2, 8-dihydroxyadenine by xanthine oxidase.
Arch Biochem Biophys. 1957 Jul;70(1):150-6. doi: 10.1016/0003-9861(57)90088-7.
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The conversion of 4-hydroxypyrazolo[3,4-d]pyrimidine (allopurinol) into 4,6-dihroxypyrazolo[3,4-d]pyrimidine (Oxipurinol) in vivo in the absence of xanthine-oxen oxidoreductase.
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Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol.
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[Purine phosphoribosyltransferase activity of human erythrocytes. Technic of determination].
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Two dimensional thin-layer high-voltage electrophoresis and chromatography for the separation of urinary purines, pyrimidines and pyrazolopyrimidines.
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The occurrence and binding of 2,8-dioxyadenine in plasma.
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Histopathological studies on kidneys from patients treated with large amounts of blood preserved with ACD-adenine.
Transfusion. 1972 Nov-Dec;12(6):376-81. doi: 10.1111/j.1537-2995.1972.tb00029.x.
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[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].
C R Acad Hebd Seances Acad Sci D. 1974 Sep;279(10):883-6.
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