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Volumn 81, Issue 2, 2014, Pages 112-120

Prevalence of fabry's disease within hemodialysis patients in Spain

Author keywords

galactosidase A activity; Dried blood spot; Fabry's disease prevalence; Hemodialysis; Kidney dysfunction

Indexed keywords

ALPHA GALACTOSIDASE;

EID: 84893180941     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CN108053     Document Type: Article
Times cited : (27)

References (48)
  • 1
    • 0034614125 scopus 로고    scopus 로고
    • Clinical features of and recent advances in therapy for Fabry disease
    • CrossRef PubMed
    • Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA. 2000; 284: 2771-2775. CrossRef PubMed
    • (2000) JAMA. , vol.284 , pp. 2771-2775
    • Brady, R.O.1    Schiffmann, R.2
  • 4
    • 2542643094 scopus 로고    scopus 로고
    • The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy
    • CrossRef PubMed
    • Hauser AC, Lorenz M, Sunder-Plassmann G. The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy. J Intern Med. 2004; 255: 629-636. CrossRef PubMed
    • (2004) J Intern Med. , vol.255 , pp. 629-636
    • Hauser, A.C.1    Lorenz, M.2    Sunder-Plassmann, G.3
  • 5
    • 5444240959 scopus 로고    scopus 로고
    • Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease
    • CrossRef PubMed
    • Sessa A, Meroni M, Battini G, Righetti M, Mignani R. Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease. Semin Nephrol. 2004; 24: 532-536. CrossRef PubMed
    • (2004) Semin Nephrol. , vol.24 , pp. 532-536
    • Sessa, A.1    Meroni, M.2    Battini, G.3    Righetti, M.4    Mignani, R.5
  • 7
    • 0036266203 scopus 로고    scopus 로고
    • Biochemical and molecular genetic basis of Fabry disease
    • PubMed
    • Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol. 2002; 13 (Suppl 2): S130-S133. PubMed
    • (2002) J Am Soc Nephrol. , vol.13 , Issue.SUPPL. 2
    • Pastores, G.M.1    Lien, Y.H.2
  • 9
    • 19244364584 scopus 로고    scopus 로고
    • Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene
    • CrossRef PubMed
    • Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet. 1996; 33: 682-688. CrossRef PubMed
    • (1996) J Med Genet. , vol.33 , pp. 682-688
    • Redonnet-Vernhet, I.1    Ploos van Amstel, J.K.2    Jansen, R.P.3    Wevers, R.A.4    Salvayre, R.5    Levade, T.6
  • 10
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • CrossRef PubMed
    • Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249-254. CrossRef PubMed
    • (1999) JAMA. , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3    Carey, W.F.4
  • 12
    • 0038820858 scopus 로고    scopus 로고
    • Screening for Fabry disease in end-stage nephropahies
    • Spada M, Pagliardini S. Screening for Fabry disease in end-stage nephropahies. J Inherit Metab Dis. 2002; 25 (Supp 1): 113.
    • (2002) J Inherit Metab Dis. , vol.25 , Issue.SUPP 1 , pp. 113
    • Spada, M.1    Pagliardini, S.2
  • 20
    • 0019464277 scopus 로고
    • Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease
    • CrossRef PubMed
    • Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta. 1981; 112: 247-251. CrossRef PubMed
    • (1981) Clin Chim Acta. , vol.112 , pp. 247-251
    • Mayes, J.S.1    Scheerer, J.B.2    Sifers, R.N.3    Donaldson, M.L.4
  • 21
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    • CrossRef PubMed
    • Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003; 138: 338-346. CrossRef PubMed
    • (2003) Ann Intern Med. , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3    Collins, A.J.4    Germain, D.P.5    Goldman, M.6    Grabowski, G.7    Packman, S.8    Wilcox, W.R.9
  • 22
    • 84893202200 scopus 로고    scopus 로고
    • European Medicines Agency (EMEA). Note for guidance on Good Clinical Practice CPMP/ ICH/135/95
    • European Medicines Agency (EMEA). Note for guidance on Good Clinical Practice CPMP/ ICH/135/95, July 2002.
    • (2002)
  • 23
    • 14944348732 scopus 로고    scopus 로고
    • Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    • CrossRef PubMed
    • Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat. 2005;25:299-305. CrossRef PubMed
    • (2005) Hum Mutat. , vol.25 , pp. 299-305
    • Shabbeer, J.1    Robinson, M.2    Desnick, R.J.3
  • 26
    • 84863325805 scopus 로고    scopus 로고
    • Enfermedad de Fabry en pacientes en hemodiálisis
    • Herrera J. Enfermedad de Fabry en pacientes en hemodiálisis. Med Clin Monogr (Barc). 2010; 11: 33-34.
    • (2010) Med Clin Monogr (Barc). , vol.11 , pp. 33-34
    • Herrera, J.1
  • 29
    • 84863301889 scopus 로고    scopus 로고
    • La Enfermedad de Fabry en pacientes en hemodiálisis: valoracion del tratamiento enzimático sustitutivo
    • doi:10.1016/j.dialis.2011.11.002.
    • Herrera J, Vidau P. La Enfermedad de Fabry en pacientes en hemodiálisis: valoracion del tratamiento enzimático sustitutivo. Dial Traspl. 2011; 33: 71-74. doi:10.1016/j.dialis.2011.11.002.
    • (2011) Dial Traspl. , vol.33 , pp. 71-74
    • Herrera, J.1    Vidau, P.2
  • 32
    • 78650740549 scopus 로고    scopus 로고
    • Molecular Genetics of Fabry Disease and Genotype-Phentype Correlation. In: Elstein D, Altarescu G, Beck M
    • (eds). Fabry Disease. Springer
    • Gal A. Molecular Genetics of Fabry Disease and Genotype-Phentype Correlation. In: Elstein D, Altarescu G, Beck M (eds). Fabry Disease. Springer; 2010. p. 3-19.
    • (2010) , pp. 3-19
    • Gal, A.1
  • 37
    • 0036266877 scopus 로고    scopus 로고
    • Natural history and treatment of renal involvement in Fabry disease
    • PubMed
    • Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol. 2002; 13 (Suppl 2): S139-S143. PubMed
    • (2002) J Am Soc Nephrol. , vol.13 , Issue.SUPPL. 2
    • Branton, M.1    Schiffmann, R.2    Kopp, J.B.3
  • 40
    • 79952912116 scopus 로고    scopus 로고
    • Update on role of agalsidase alfa in management of Fabry disease
    • CrossRef PubMed
    • Ramaswami U. Update on role of agalsidase alfa in management of Fabry disease. Drug Des Devel Ther. 2011; 5: 155-173. CrossRef PubMed
    • (2011) Drug Des Devel Ther. , vol.5 , pp. 155-173
    • Ramaswami, U.1
  • 41
    • 84866068909 scopus 로고    scopus 로고
    • Agalsidase alfa: a review of its use in the management of Fabry disease
    • PubMed
    • Keating GM. Agalsidase alfa: a review of its use in the management of Fabry disease. BioDrugs. 2012; 26: 335-354. PubMed
    • (2012) BioDrugs. , vol.26 , pp. 335-354
    • Keating, G.M.1
  • 42
    • 31544456336 scopus 로고    scopus 로고
    • Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
    • CrossRef PubMed
    • Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant. 2006; 21: 345-354. CrossRef PubMed
    • (2006) Nephrol Dial Transplant. , vol.21 , pp. 345-354
    • Schiffmann, R.1    Ries, M.2    Timmons, M.3    Flaherty, J.T.4    Brady, R.O.5
  • 43
    • 33646845939 scopus 로고    scopus 로고
    • Intravenous enzyme replacement therapy: better in home or hospital?
    • PubMed
    • Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006; 15: 330-333. PubMed
    • (2006) Br J Nurs , vol.15 , pp. 330-333
    • Milligan, A.1    Hughes, D.2    Goodwin, S.3    Richfield, L.4    Mehta, A.5
  • 44
    • 39749149610 scopus 로고    scopus 로고
    • Fabry nephropathy: 5 years of enzyme replacement therapy - a short review
    • Barbey F, Lidove O, Schwarting A. Fabry nephropathy: 5 years of enzyme replacement therapy - a short review. Nephrol Dial Transplant. 2008; 1: 11-19.
    • (2008) Nephrol Dial Transplant. , vol.1 , pp. 11-19
    • Barbey, F.1    Lidove, O.2    Schwarting, A.3
  • 46
    • 79958060136 scopus 로고    scopus 로고
    • Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS - the Fabry Outcome Survey
    • CrossRef PubMed
    • Hughes DA, Barba Romero MA, Hollak CE, Giugliani R, Deegan PB. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS - the Fabry Outcome Survey. Mol Genet Metab. 2011; 103: 207-214. CrossRef PubMed
    • (2011) Mol Genet Metab. , vol.103 , pp. 207-214
    • Hughes, D.A.1    Barba Romero, M.A.2    Hollak, C.E.3    Giugliani, R.4    Deegan, P.B.5
  • 47
    • 34547830275 scopus 로고    scopus 로고
    • Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
    • CrossRef PubMed
    • Pastores GM, Boyd E, Crandall K, Whelan A, Piersall L, Barnett N. Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease. Nephrol Dial Transplant. 2007; 22: 1920-1925. CrossRef PubMed
    • (2007) Nephrol Dial Transplant. , vol.22 , pp. 1920-1925
    • Pastores, G.M.1    Boyd, E.2    Crandall, K.3    Whelan, A.4    Piersall, L.5    Barnett, N.6
  • 48
    • 67650707628 scopus 로고    scopus 로고
    • Enfermedad cardiovascular, enfermedad renal y otras enfermedades crónicas. Es necesaria una intervención más temprana en la enfermedad renal crónica
    • PubMed
    • Martín de Francisco AL, Aguilera L, Fuster V. Enfermedad cardiovascular, enfermedad renal y otras enfermedades crónicas. Es necesaria una intervención más temprana en la enfermedad renal crónica. Nefrologia. 2009; 29: 6-9. PubMed
    • (2009) Nefrologia. , vol.29 , pp. 6-9
    • Martín de Francisco, A.L.1    Aguilera, L.2    Fuster, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.