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2. 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]
3. Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. Kamatani N; Sonoda T; Nishioka K J Urol; 1988 Dec; 140(6):1470-2. PubMed ID: 3193517 [TBL] [Abstract][Full Text] [Related]
4. Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase. Kamatani N; Takeuchi F; Nishida Y; Yamanaka H; Nishioka K; Tatara K; Fujimori S; Kaneko K; Akaoka I; Tofuku Y Metabolism; 1985 Feb; 34(2):164-8. PubMed ID: 3871499 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [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]
8. 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]
9. 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]
10. 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. 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]
13. 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]
14. 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]
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. 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]
17. [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]
18. Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. Taniguchi A; Tsuchida S; Kuno S; Mita M; Machida T; Ioritani N; Terai C; Yamanaka H; Kamatani N Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1141-5. PubMed ID: 15571218 [TBL] [Abstract][Full Text] [Related]