These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. 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]
23. Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency. Kamatani N; Kuroshima S; Terai C; Kawai K; Mikanagi K; Nishioka K Hum Genet; 1987 Jun; 76(2):148-52. PubMed ID: 3610146 [TBL] [Abstract][Full Text] [Related]
24. [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]
25. Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. Funato T; Nishiyama Y; Ioritani N; Matsuki R; Yoshida K; Kaku M; Sasaki T; Ideguchi H; Ono J J Clin Lab Anal; 2000; 14(6):274-9. PubMed ID: 11138609 [TBL] [Abstract][Full Text] [Related]
26. Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis. Bye S; Mallmann R; Duley J; Simmonds HA; Chen J; Tischfield JA; Sahota A Clin Investig; 1994 Jul; 72(7):550-3. PubMed ID: 7981585 [TBL] [Abstract][Full Text] [Related]
27. 2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. Sahota A; Chen J; Behzadian MA; Ravindra R; Takeuchi H; Stambrook PJ; Tischfield JA Am J Hum Genet; 1991 May; 48(5):983-9. PubMed ID: 1673292 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis. Nishida Y; Hirano S; Miyamoto T Arch Intern Med; 1986 Oct; 146(10):2068-70. PubMed ID: 3767554 [TBL] [Abstract][Full Text] [Related]
30. A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi. Szönyi P; Berényi M; Tóth J Int Urol Nephrol; 1985; 17(3):231-3. PubMed ID: 4086237 [TBL] [Abstract][Full Text] [Related]
31. [2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. Ohne T; Fujito A; Koga K; Imaide Y; Uchida M Hinyokika Kiyo; 1998 Oct; 44(10):725-8. PubMed ID: 9850838 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. The identification of 2,8-dihydroxyadenine, a new component of urinary stones. Simmonds HA; Van Acker KJ; Cameron JS; Snedden W Biochem J; 1976 Aug; 157(2):485-7. PubMed ID: 962876 [TBL] [Abstract][Full Text] [Related]
34. [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]
35. 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]
36. [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]
37. Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. Kaneko Y; Takeuchi H; Takenawa J; Nakayama H; Fujita J; Yoshida O Urol Res; 1993 Mar; 21(2):89-93. PubMed ID: 8503153 [TBL] [Abstract][Full Text] [Related]
38. A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. Nozue H; Kamoda T; Saitoh H; Ichikawa K; Taniguchi A Acta Paediatr; 2011 Dec; 100(12):e285-8. PubMed ID: 21635362 [TBL] [Abstract][Full Text] [Related]
39. [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]
40. 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] [Previous] [Next] [New Search]