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2. HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. Engle SJ; Womer DE; Davies PM; Boivin G; Sahota A; Simmonds HA; Stambrook PJ; Tischfield JA Hum Mol Genet; 1996 Oct; 5(10):1607-10. PubMed ID: 8894695 [TBL] [Abstract][Full Text] [Related]
3. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Wu CL; Melton DW Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579 [TBL] [Abstract][Full Text] [Related]
4. [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]
14. [2,8-dihydroxyadenine urolithiasis: case report and literature review]. Arancio M; Ranzoni S; Delsignore A; Landi G; Maffei N; Marcato M; Mina A; Martinengo C Urologia; 2011; 78(4):305-9. PubMed ID: 21553389 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. [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]
20. 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] [Next] [New Search]