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- W2051903279 abstract "Homozygous adenine phosphoribosyltransferase deficiency is a genetic defect that is associated with 2,8-dihydroxyadenine urolithiasis. Since the prevalence of the heterozygous state is found in 0.4% to 1.2% of the population, it is surprising that more cases of 2,8-dihydroxyadenine urolithiasis have not been reported. Herein we describe a patient with complete adenine phosphoribosyltransferase deficiency with 2,8-dihydroxyadenine urolithiasis leading to chronic renal failure. Gene sequencing revealed that the patient is a compound heterozygote. One of the mutations (a T insertion between bases 346 and 347) has been encountered before, but the second (a G-to-A substitution at base 1356) has not been previously reported. Possible explanations for the unexpected rarity of 2,8-dihydroxyadenine urolithiasis are discussed. (Arch Intern Med. 1993;153:767-770)" @default.
- W2051903279 created "2016-06-24" @default.
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- W2051903279 date "1993-03-22" @default.
- W2051903279 modified "2023-09-27" @default.
- W2051903279 title "Adenine Phosphoribosyltransferase Deficiency With Renal Deposition of 2,8-Dihydroxyadenine Leading to Nephrolithiasis and Chronic Renal Failure" @default.
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- W2051903279 doi "https://doi.org/10.1001/archinte.1993.00410060071011" @default.
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