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Volumn 1, Issue 3, 2012, Pages 194-197

A renal variant of fabry disease: A case with a novel gal a hemizygote mutation

Author keywords

Enzyme replacement therapy; Fabry disease; Kidney electron microscopy

Indexed keywords


EID: 84867407858     PISSN: 22518363     EISSN: 22518819     Source Type: Journal    
DOI: 10.5812/nephropathol.8123     Document Type: Article
Times cited : (8)

References (10)
  • 1
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    • Nephropathy in Fabry disease: The importance of early diagnosis and testing in high-risk populations
    • Oqvist B, Brenner BM, Oliveira JP, Ortiz A, Schaefer R, Svarstad E, et al. Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transplant. 2009;24(6):1736-43.
    • (2009) Nephrol Dial Transplant , vol.24 , Issue.6 , pp. 1736-1743
    • Oqvist, B.1    Brenner, B.M.2    Oliveira, J.P.3    Ortiz, A.4    Schaefer, R.5    Svarstad, E.6
  • 2
    • 31544437690 scopus 로고    scopus 로고
    • Alpha-galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease?
    • Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease? Nephrol Dial Transplant. 2006;21(2):549-50.
    • (2006) Nephrol Dial Transplant , vol.21 , Issue.2 , pp. 549-550
    • Lee, N.C.1    Niu, D.M.2    Lin, C.Y.3    Hsiao, K.J.4    Yang, A.H.5    Ng, Y.Y.6
  • 3
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype
    • Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003;64(3):801-7.
    • (2003) Kidney Int , vol.64 , Issue.3 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3    Tanaka, A.4    Yasumoto, Y.5    Yoshida, A.6
  • 4
    • 0036122659 scopus 로고    scopus 로고
    • Natural history of Fabry renal disease: Influence of alpha-galactosidaseA activity and genetic mutations on clinical course
    • Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidaseA activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122-38.
    • (2002) Medicine (Baltimore) , vol.81 , Issue.2 , pp. 122-138
    • Branton, M.H.1    Schiffmann, R.2    Sabnis, S.G.3    Murray, G.J.4    Quirk, J.M.5    Altarescu, G.6
  • 5
    • 42949153396 scopus 로고    scopus 로고
    • Biochemical and genetic diagnosis of Fabry disease
    • Oxford Pharma Genesis Ltd. In: Mehta A, Beck M, Sunder-Plassmann G, editor(s)
    • Winchester B, Young E. Biochemical and genetic diagnosis of Fabry disease. Fabry Disease: Perspectives from 5 Years of FOS, Oxford Pharma Genesis Ltd. In: Mehta A, Beck M, Sunder-Plassmann G, editor(s). p. 169-181.
    • Fabry Disease: Perspectives from 5 Years of FOS , pp. 169-181
    • Winchester, B.1    Young, E.2
  • 9
    • 0036436320 scopus 로고    scopus 로고
    • Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    • Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62(6):1933-46.
    • (2002) Kidney Int , vol.62 , Issue.6 , pp. 1933-1946
    • Thurberg, B.L.1    Rennke, H.2    Colvin, R.B.3    Dikman, S.4    Gordon, R.E.5    Collins, A.B.6
  • 10
    • 34248190164 scopus 로고    scopus 로고
    • Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    • Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18(5):1547-57.
    • (2007) J am Soc Nephrol , vol.18 , Issue.5 , pp. 1547-1557
    • Germain, D.P.1    Waldek, S.2    Banikazemi, M.3    Bushinsky, D.A.4    Charrow, J.5    Desnick, R.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.