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Acta Urologica Japonica
Volumn 49, Issue 8, 2003, Pages 497-499
2, 8-Dihydoroxyadenine (DHA) urolithiasis: A case report
Author keywords

2, 8 dihydoxyadenine (DHA) urolithiasis; APRT deficiency
Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE;
EID: 0141703230     PISSN: 00181994     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)
References (10)
  • 1
    • 0016099951 scopus 로고
    • Une nouvelle maladie metabolique: Le deficitcomplet en adenine phosphoribosyltransferase avec lithiase de 2,8-dihydoxyadenine
    • Cartier P and Hamet M: Une nouvelle maladie metabolique: le deficitcomplet en adenine phosphoribosyltransferase avec lithiase de 2,8-dihydoxyadenine. C R Acad Sci III 279: 883-886, 1974
    • (1974) C R Acad Sci III , vol.279 , pp. 883-886
    • Cartier, P.1    Hamet, M.2
  • 2
    • 0015950168 scopus 로고
    • Assignment of gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse human somatic cell hybrization
    • Tischfield JA and Ruddle FH: Assignment of gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse human somatic cell hybrization. Proc Natl Acad Sci USA 71: 45-49, 1974
    • (1974) Proc Natl Acad Sci USA , vol.71 , pp. 45-49
    • Tischfield, J.A.1    Ruddle, F.H.2
  • 3
    • 0023194576 scopus 로고
    • Comparative anatomy of the human APRT gene and enzyme: Nucleotide sequence divergenece and conservation of a nonrandom CpG dinucleotide arrangement
    • Broderick TP, schaff DA, Bertino AM, et al.: Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergenece and conservation of a nonrandom CpG dinucleotide arrangement. Proc Natl Acad Sci USA 84: 3349-3353, 1987
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 3349-3353
    • Broderick, T.P.1    Schaff, D.A.2    Bertino, A.M.3
  • 4
    • 0022366637 scopus 로고
    • Common characteristics of mutant adenine phosphoribosyltransferase from four separate Japanese families with 2, 8-dihydoxyadenine urolithiasis associated with partial enzyme deficiencies
    • Fujimori S, Akaoka I, Yamanaka H, et al.: Common characteristics of mutant adenine phosphoribosyltransferase from four separate Japanese families with 2, 8-dihydoxyadenine urolithiasis associated with partial enzyme deficiencies. Hum Genet 71: 171-176, 1985
    • (1985) Hum Genet , vol.71 , pp. 171-176
    • Fujimori, S.1    Akaoka, I.2    Yamanaka, H.3
  • 5
    • 85009051164 scopus 로고    scopus 로고
    • Japanese source
  • 6
    • 0025964923 scopus 로고
    • A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects
    • Minori A, Hidaka Y, Wu VC, et al.: A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. Am J Hum genet 48: 102-107, 1991
    • (1991) Am J Hum Genet , vol.48 , pp. 102-107
    • Minori, A.1    Hidaka, Y.2    Wu, V.C.3
  • 7
    • 0026637076 scopus 로고
    • Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients
    • Kamatani N, Hakoda M, Otsuka S, et al.: Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90: 131-136, 1992
    • (1992) J Clin Invest , vol.90 , pp. 131-136
    • Kamatani, N.1    Hakoda, M.2    Otsuka, S.3
  • 8
    • 0023856891 scopus 로고
    • Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese
    • Hidaka Y, Tarle SA, Fujimori S, et al.: Human adenine phosphoribosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese. J Clin Invest 81: 945-950, 1988
    • (1988) J Clin Invest , vol.81 , pp. 945-950
    • Hidaka, Y.1    Tarle, S.A.2    Fujimori, S.3
  • 9
    • 85009049286 scopus 로고    scopus 로고
    • Japanese source
  • 10
    • 0021990911 scopus 로고
    • Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase
    • Kamatani N, Takeuchi F, Nishida Y, et al.: Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase. Metabolism 34: 164-168, 1985
    • (1985) Metabolism , vol.34 , pp. 164-168
    • Kamatani, N.1    Takeuchi, F.2    Nishida, Y.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.