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23. 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]
24. 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]
25. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. Iwaki T; Kusaka T; Ohashi I; Nishida T; Imai T; Itoh S Pediatr Nephrol; 2010 Jun; 25(6):1173-6. PubMed ID: 20101413 [TBL] [Abstract][Full Text] [Related]
33. 2,8-dihydroxyadeninuria: are there no cases in Scandinavia? Arnadottir M; Laxdal T; Halldorsdottir B Scand J Urol Nephrol; 2005; 39(1):82-6. PubMed ID: 15764278 [TBL] [Abstract][Full Text] [Related]
34. [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]
35. 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]
36. Sequential analysis of kidney stone formation in the Aprt knockout mouse. Evan AP; Bledsoe SB; Connors BA; Deng L; Liang L; Shao C; Fineberg NS; Grynpas MD; Stambrook PJ; Youzhi S; Sahota A; Tischfield JA Kidney Int; 2001 Sep; 60(3):910-23. PubMed ID: 11532086 [TBL] [Abstract][Full Text] [Related]
37. [Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. Mita M; Midorikawa J; Kokubun K; Uchida T Rinsho Ketsueki; 1990 Oct; 31(10):1701-5. PubMed ID: 2255060 [TBL] [Abstract][Full Text] [Related]
38. 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]
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40. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Silva M; Silva CH; Iulek J; Thiemann OH Biochemistry; 2004 Jun; 43(24):7663-71. PubMed ID: 15196008 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]