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3. Re: Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. Gleeson MJ; Griffith DP J Urol; 1989 Sep; 142(3):834. PubMed ID: 2769881 [No Abstract] [Full Text] [Related]
4. Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Fujimori S; Akaoka I; Sakamoto K; Yamanaka H; Nishioka K; Kamatani N Hum Genet; 1985; 71(2):171-6. PubMed ID: 3876264 [TBL] [Abstract][Full Text] [Related]
5. 2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States. Manyak MJ; Frensilli FJ; Miller HC J Urol; 1987 Feb; 137(2):312-4. PubMed ID: 3806829 [TBL] [Abstract][Full Text] [Related]
6. [A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]. Cartier P; Hamet M; Hamburger J C R Acad Hebd Seances Acad Sci D; 1974 Sep; 279(10):883-6. PubMed ID: 4219298 [No Abstract] [Full Text] [Related]
7. A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. Takeuchi H; Kaneko Y; Fujita J; Yoshida O J Urol; 1993 Apr; 149(4):824-6. PubMed ID: 8455250 [TBL] [Abstract][Full Text] [Related]
8. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Kamatani N; Terai C; Kuroshima S; Nishioka K; Mikanagi K Hum Genet; 1987 Feb; 75(2):163-8. PubMed ID: 3817810 [TBL] [Abstract][Full Text] [Related]
9. 2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States. Witten FR; Morgan JW; Foster JG; Glenn JF J Urol; 1983 Nov; 130(5):938-42. PubMed ID: 6632104 [TBL] [Abstract][Full Text] [Related]
10. Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT. Abe S; Hayasaka K; Narisawa K; Tada K; Okada G; Koyama H; Kurosu S; Kudoh M; Matsushita K Enzyme; 1987; 37(4):182-8. PubMed ID: 2440671 [TBL] [Abstract][Full Text] [Related]
11. Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies. Nobori T; Kamatani N; Mikanagi K; Nishida Y; Nishioka K Biochem Biophys Res Commun; 1986 Jun; 137(3):998-1005. PubMed ID: 3488062 [TBL] [Abstract][Full Text] [Related]
12. Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase. Sakamoto K; Fujisawa Y; Ohmori A; Minoda K; Yamanaka H; Nishioka K Urol Int; 1981; 36(4):274-80. PubMed ID: 7331059 [No Abstract] [Full Text] [Related]
13. 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]
14. [Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)]. Cartier P; Hamet M; Perignon JL Nouv Presse Med; 1980 Jun; 9(25):1767-70. PubMed ID: 6892958 [TBL] [Abstract][Full Text] [Related]
15. [Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyltransferase. Report of a case (author's transl)]. Kuroda M; Miki T; Kiyohara H; Usami M; Nakamura T; Kotake T; Takemoto M; Sonoda T Nihon Hinyokika Gakkai Zasshi; 1980; 71(3):283-8. PubMed ID: 7392348 [No Abstract] [Full Text] [Related]
16. Complete deficiency of adenine phosphoribosyl transferase: report of a new family. Nakamoto T; Nakatsu H; Kishi T; Sakura N; Usui T; Nihira H J Urol; 1983 Sep; 130(3):580-2. PubMed ID: 6887386 [TBL] [Abstract][Full Text] [Related]
17. Complete deficiency of adenine phosphoribosyltransferase. Report of a family. Van Acker KJ; Simmonds HA; Potter C; Cameron JS N Engl J Med; 1977 Jul; 297(3):127-32. PubMed ID: 865583 [TBL] [Abstract][Full Text] [Related]
18. [Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. Safranow K Postepy Hig Med Dosw; 1998; 52(1):89-104. PubMed ID: 9608233 [TBL] [Abstract][Full Text] [Related]
19. Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals. Christensen E; Brandt NJ; Laxdal T J Inherit Metab Dis; 1987; 10(2):187-94. PubMed ID: 3116337 [TBL] [Abstract][Full Text] [Related]
20. Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. Simmonds HA; Barratt TM; Webster DR; Sahota A; Van Acker KJ; Cameron JS; Dillon M Adv Exp Med Biol; 1980; 122A():337-41. PubMed ID: 7424654 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]