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Volumn 1, Issue 3, 2012, Pages 152-154

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Author keywords

Fabry disease; Fabry nephropathy; Kidney disease; Mutation

Indexed keywords


EID: 84874720024     PISSN: 22518363     EISSN: 22518819     Source Type: Journal    
DOI: 10.5812/nephropathol.8110     Document Type: Note
Times cited : (16)

References (17)
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  • 4
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    • Fabry Registry. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
    • Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112-28.
    • (2008) Mol Genet Metab , vol.93 , Issue.2 , pp. 112-128
    • Wilcox, W.R.1    Oliveira, J.P.2    Hopkin, R.J.3    Ortiz, A.4    Banikazemi, M.5    Feldt-Rasmussen, U.6
  • 10
    • 84925006745 scopus 로고    scopus 로고
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    • http://www.rostlab.org/services/snpdbe/dosearch.php?id=name&val=NP_000160&organism2=human&organ ism1=; accessed on July 25, 2012.
    • (2012)
  • 11
    • 77649086331 scopus 로고    scopus 로고
    • Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE study- -screening genetic conditions in Portuguese young stroke patients
    • Baptista MV, Ferreira S, Pinho-E-Melo T, Carvalho M, Cruz VT, Carmona C, et al. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study- -screening genetic conditions in Portuguese young stroke patients. Stroke. 2010;41:431-6.
    • (2010) Stroke , vol.41 , pp. 431-436
    • Baptista, M.V.1    Ferreira, S.2    Pinho-E-Melo, T.3    Carvalho, M.4    Cruz, V.T.5    Carmona, C.6
  • 12
    • 44449143398 scopus 로고    scopus 로고
    • Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy
    • Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant. 2008;23:1600-7.
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 1600-1607
    • Ortiz, A.1    Oliveira, J.P.2    Waldek, S.3    Warnock, D.G.4    Cianciaruso, B.5    Wanner, C.6
  • 13
    • 79952192786 scopus 로고    scopus 로고
    • Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
    • Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel C, Whitley C, et al. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int. 2011;79:663-70.
    • (2011) Kidney Int , vol.79 , pp. 663-670
    • Najafian, B.1    Svarstad, E.2    Bostad, L.3    Gubler, M.C.4    Tøndel, C.5    Whitley, C.6
  • 16
    • 78650371014 scopus 로고    scopus 로고
    • Prognostic indicators of renal disease progression in adults with Fabry disease: Natural history data from the Fabry Registry
    • Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5:2220-8.
    • (2010) Clin J am Soc Nephrol , vol.5 , pp. 2220-2228
    • Wanner, C.1    Oliveira, J.P.2    Ortiz, A.3    Mauer, M.4    Germain, D.P.5    Linthorst, G.E.6
  • 17
    • 84861168490 scopus 로고    scopus 로고
    • Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation
    • Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27:1042-9.
    • (2012) Nephrol Dial Transplant , vol.27 , pp. 1042-1049
    • Warnock, D.G.1    Ortiz, A.2    Mauer, M.3    Linthorst, G.E.4    Oliveira, J.P.5    Serra, A.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.