185 related articles for article (PubMed ID: 33678741)
21. Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).
Suzuki K; Kobayashi S; Kawamura K; Kuhara T; Tsugawa R
Int J Urol; 1997 May; 4(3):304-6. PubMed ID: 9255672
[TBL] [Abstract][Full Text] [Related]
22. A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment.
Kunou M; Yamaguchi M; Takahashi H; Kimura Y; Watanabe N; Ito M; Sugiyama H; Iwagaitsu S; Nobata H; Kinashi H; Katsuno T; Banno S; Ito Y; Ishimoto T
CEN Case Rep; 2023 Aug; 12(3):329-334. PubMed ID: 36576711
[TBL] [Abstract][Full Text] [Related]
23. Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
Leow EH; Chong SL; Tan ES; Koh AL; Cham BWM; Yap CJY; Ng YH
Nephrology (Carlton); 2023 Dec; 28(12):649-654. PubMed ID: 37619970
[TBL] [Abstract][Full Text] [Related]
24. Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report
.
Cochran B; Kovačíková T; Hodaňová K; Živná M; Hnízda A; Niehaus AG; Bonnecaze A; Balasubraminiam G; Ceballos-Picot I; Hawfield A; Kidd K; Kmoch S; Bleyer AJ
Clin Nephrol; 2018 Oct; 90(4):296-301. PubMed ID: 30106368
[TBL] [Abstract][Full Text] [Related]
25. 2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
Katsuoka Y; Miyakita H; Shiramizu M; Iwagaki H; Ikeda T
Hinyokika Kiyo; 1992 May; 38(5):573-7. PubMed ID: 1609669
[TBL] [Abstract][Full Text] [Related]
26. [A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].
Konishi N; Takeshita K; Yasui H
Nihon Jinzo Gakkai Shi; 1994 Oct; 36(10):1191-5. PubMed ID: 7815752
[TBL] [Abstract][Full Text] [Related]
27. Decreased kidney function and crystal deposition in the tubules after kidney transplant.
Stratta P; Fogazzi GB; Canavese C; Airoldi A; Fenoglio R; Bozzola C; Ceballos-Picot I; Bollée G; Daudon M
Am J Kidney Dis; 2010 Sep; 56(3):585-90. PubMed ID: 20303634
[TBL] [Abstract][Full Text] [Related]
28. Adenine phosphoribosyltransferase deficiency: 2,8-dihydroxyadenine urolithiasis in a 48-year-old woman.
Usenius JP; Ruopuro ML; Usenius R
Br J Urol; 1988 Dec; 62(6):521-4. PubMed ID: 3219508
[TBL] [Abstract][Full Text] [Related]
29. Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure.
Rajput P; Virani ZA; Shah BV
Indian J Nephrol; 2020; 30(4):290-292. PubMed ID: 33273797
[TBL] [Abstract][Full Text] [Related]
30. Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Edvardsson VO; Runolfsdottir HL; Thorsteinsdottir UA; Sch Agustsdottir IM; Oddsdottir GS; Eiriksson F; Goldfarb DS; Thorsteinsdottir M; Palsson R
Eur J Intern Med; 2018 Feb; 48():75-79. PubMed ID: 29241594
[TBL] [Abstract][Full Text] [Related]
31. Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Runolfsdottir HL; Lin TL; Goldfarb DS; Sayer JA; Michael M; Ketteridge D; Rich PR; Edvardsson VO; Palsson R
Urolithiasis; 2020 Aug; 48(4):337-344. PubMed ID: 32399606
[TBL] [Abstract][Full Text] [Related]
32. Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.
Fye KH; Sahota A; Hancock DC; Gelb AB; Chen J; Sparks JW; Sibley RK; Tischfield JA
Arch Intern Med; 1993 Mar; 153(6):767-70. PubMed ID: 8447714
[TBL] [Abstract][Full Text] [Related]
33. Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction.
Benedetto B; Madden R; Kurbanov A; Braden G; Freeman J; Lipkowitz GS
Am J Kidney Dis; 2001 May; 37(5):E37. PubMed ID: 11325702
[TBL] [Abstract][Full Text] [Related]
34. Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma.
Thorsteinsdottir UA; Runolfsdottir HL; Eiriksson FF; Agustsdottir IMS; Edvardsson VO; Palsson R; Thorsteinsdottir M
J Chromatogr B Analyt Technol Biomed Life Sci; 2024 Mar; 1235():124041. PubMed ID: 38359644
[TBL] [Abstract][Full Text] [Related]
35. [The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Ikeda H; Watanabe T; Fujimoto Y; Yamamoto S; Hosaki I; Isoyama K; Kawano S; Chiba M
Hinyokika Kiyo; 2012 Jul; 58(7):15-9. PubMed ID: 22988602
[TBL] [Abstract][Full Text] [Related]
36. Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Kamatani N; Kuroshima S; Yamanaka H; Nakashe S; Take H; Hakoda M
Hum Genet; 1990 Oct; 85(5):500-4. PubMed ID: 2227934
[TBL] [Abstract][Full Text] [Related]
37. An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Furrow E; Pfeifer RJ; Osborne CA; Lulich JP
Mol Genet Metab; 2014 Mar; 111(3):399-403. PubMed ID: 24359665
[TBL] [Abstract][Full Text] [Related]
38. [Adenine phosphoribosyltransferase deficiency and its purine metabolism].
Taniguchi A
Nihon Rinsho; 2008 Apr; 66(4):784-8. PubMed ID: 18409532
[TBL] [Abstract][Full Text] [Related]
39. [The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H; Watanabe T; Fujimoto Y; Yamamoto S; Hosaki I; Isoyama K; Kawano S; Chiba M
Hinyokika Kiyo; 2011 Jan; 57(1):15-9. PubMed ID: 21304254
[TBL] [Abstract][Full Text] [Related]
40. Adenine phosphoribosyltransferase deficiency in children.
Harambat J; Bollée G; Daudon M; Ceballos-Picot I; Bensman A;
Pediatr Nephrol; 2012 Apr; 27(4):571-9. PubMed ID: 22212387
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
