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Volumn 2, Issue , 2010, Pages 953-963

Management of fabry disease with agalsidase treatment

Author keywords

Agalsidase alfa; Agalsidase beta; Enzyme replacement therapy; Fabry disease; Lysosomal storage disorder

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; PLACEBO;

EID: 78650729342     PISSN: 1179559X     EISSN: 1179559X     Source Type: Journal    
DOI: 10.4137/CMT.S6104     Document Type: Review
Times cited : (1)

References (95)
  • 3
    • 33745280137 scopus 로고    scopus 로고
    • High incidence of later-onset Fabry disease revealed by newborn screening
    • Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79:31-40.
    • (2006) Am J Hum Genet , vol.79 , pp. 31-40
    • Spada, M.1    Pagliardini, S.2    Yasuda, M.3
  • 4
    • 77955878746 scopus 로고    scopus 로고
    • Fabry disease: A review of current management strategies
    • Mehta A, Eykens F, Feliciani C, et al. Fabry disease: A review of current management strategies. QJM. 2010;103:641-659.
    • (2010) QJM , vol.103 , pp. 641-659
    • Mehta, A.1    Eykens, F.2    Feliciani, C.3
  • 5
    • 77956796385 scopus 로고    scopus 로고
    • Agalsidase alfa for enzyme replacement therapy in Fabry disease
    • Mehta A. Agalsidase alfa for enzyme replacement therapy in Fabry disease. Expert Rev. Endocrinol Metab. 2010;5(5):641-652.
    • (2010) Expert Rev. Endocrinol Metab , vol.5 , Issue.5 , pp. 641-652
    • Mehta, A.1
  • 6
    • 78649634506 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy in Fabry disease-a comprehensive review of the medical literature
    • 2010. (In press, due for publication 2010 Nov 15 and Pub Med ahead of print
    • Lidove O, West M, Pintos-Morell G, et al. Effects of enzyme replacement therapy in Fabry disease-a comprehensive review of the medical literature. Genet Med. 2010. (In press, due for publication 2010 Nov 15 and Pub Med ahead of print, 2010 Oct 25).
    • (2010) Genet Med
    • Lidove, O.1    West, M.2    Pintos-Morell, G.3
  • 7
    • 78649632339 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Fabry disease
    • 2010. (In press, due for publication 2010 Nov 15 and Pub Med ahead of print,
    • Mehta A, West M, Pintos-Morell G, et al. Therapeutic goals in the treatment of Fabry disease, Genet Med. 2010. (In press, due for publication 2010 Nov 15 and Pub Med ahead of print, 2010 Oct 25).
    • (2010) Genet Med
    • Mehta, A.1    West, M.2    Pintos-Morell, G.3
  • 8
    • 29944437554 scopus 로고    scopus 로고
    • Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey
    • Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006;95:86-92.
    • (2006) Acta Paediatr , vol.95 , pp. 86-92
    • Ramaswami, U.1    Whybra, C.2    Parini, R.3
  • 9
    • 70349616542 scopus 로고    scopus 로고
    • Fabry disease in children and the effects of enzyme replacement treatment
    • Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr. 2009;168:1355-1363.
    • (2009) Eur J Pediatr , vol.168 , pp. 1355-1363
    • Pintos-Morell, G.1    Beck, M.2
  • 10
    • 77950603771 scopus 로고    scopus 로고
    • Misdiagnosis in Fabry disease
    • Marchesoni CL, Roa N, Pardal AM, et al. Misdiagnosis in Fabry disease. J Pediatr. 2010;156(5):828-831.
    • (2010) J Pediatr , vol.156 , Issue.5 , pp. 828-831
    • Marchesoni, C.L.1    Roa, N.2    Pardal, A.M.3
  • 12
    • 0036145366 scopus 로고    scopus 로고
    • Patients with Fabry disease on dialysis in the United States
    • Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61:249-255.
    • (2002) Kidney Int , vol.61 , pp. 249-255
    • Thadhani, R.1    Wolf, M.2    West, M.L.3
  • 13
    • 67651123138 scopus 로고    scopus 로고
    • Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
    • Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009; 24:2102-2111.
    • (2009) Nephrol Dial Transplant , vol.24 , pp. 2102-2111
    • Schiffmann, R.1    Warnock, D.G.2    Banikazemi, M.3
  • 14
    • 68049129847 scopus 로고    scopus 로고
    • Natural course of Fabry disease: Changing pattern of causes of death in FOS-Fabry Outcome Survey
    • Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet. 2009;46:548-552.
    • (2009) J Med Genet , vol.46 , pp. 548-552
    • Mehta, A.1    Clarke, J.T.2    Giugliani, R.3
  • 15
    • 73849102063 scopus 로고    scopus 로고
    • Life expectancy and cause of death in males and females with Fabry disease: Fndings from the Fabry Registry
    • Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: fndings from the Fabry Registry. Genet Med. 2009;11:790-796.
    • (2009) Genet Med , vol.11 , pp. 790-796
    • Waldek, S.1    Patel, M.R.2    Banikazemi, M.3    Lemay, R.4    Lee, P.5
  • 16
    • 33645454578 scopus 로고    scopus 로고
    • Diagnosis and management of kidney involvement in Fabry disease
    • Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis. 2006;13:138-147.
    • (2006) Adv Chronic Kidney Dis , vol.13 , pp. 138-147
    • Warnock, D.G.1    West, M.L.2
  • 17
    • 0034766525 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750-760.
    • (2001) J Med Genet , vol.38 , pp. 750-760
    • Macdermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 18
    • 55749096248 scopus 로고    scopus 로고
    • Onset and progression of the Anderson-Fabry disease related cardiomyopathy
    • Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol. 2008; 130:367-373.
    • (2008) Int J Cardiol , vol.130 , pp. 367-373
    • Kampmann, C.1    Linhart, A.2    Baehner, F.3
  • 19
    • 27844441232 scopus 로고    scopus 로고
    • Fabry's disease-an important risk factor for stroke
    • Schiffmann R, Ries M. Fabry's disease-an important risk factor for stroke. Lancet. 2005;366:1754-1756.
    • (2005) Lancet , vol.366 , pp. 1754-1756
    • Schiffmann, R.1    Ries, M.2
  • 20
    • 62449143800 scopus 로고    scopus 로고
    • Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events. Natural history data from the Fabry registry
    • Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events. Natural history data from the Fabry registry. Stroke. 2009;40:788-794.
    • (2009) Stroke , vol.40 , pp. 788-794
    • Sims, K.1    Politei, J.2    Banikazemi, M.3    Lee, P.4
  • 21
    • 55849108852 scopus 로고    scopus 로고
    • Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
    • Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008; 64:550-555.
    • (2008) Pediatr Res , vol.64 , pp. 550-555
    • Hopkin, R.J.1    Bissler, J.2    Banikazemi, M.3
  • 22
    • 20344382763 scopus 로고    scopus 로고
    • Pediatric Fabry disease
    • Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics. 2005; 115:344-355.
    • (2005) Pediatrics , vol.115 , pp. 344-355
    • Ries, M.1    Gupta, S.2    Moore, D.F.3
  • 24
    • 33749067655 scopus 로고    scopus 로고
    • Enzyme-replacement therapy with agal-sidase alfa in children with Fabry disease
    • Ries M, Clarke JT, Whybra C, et al. Enzyme-replacement therapy with agal-sidase alfa in children with Fabry disease. Pediatrics. 2006;118:924-932.
    • (2006) Pediatrics , vol.118 , pp. 924-932
    • Ries, M.1    Clarke, J.T.2    Whybra, C.3
  • 25
    • 0036240872 scopus 로고    scopus 로고
    • Assessment of health-related quality-of-life in males with Anderson Fabry disease before therapeutic intervention
    • Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry disease before therapeutic intervention. Qual Life Res. 2002;11:127-133.
    • (2002) Qual Life Res , vol.11 , pp. 127-133
    • Miners, A.H.1    Holmes, A.2    Sherr, L.3    Jenkinson, C.4    Macdermot, K.D.5
  • 26
    • 0036260323 scopus 로고    scopus 로고
    • Quality of life of patients with Fabry disease
    • Gold KF, Pastores GM, Botteman MF, et al. Quality of life of patients with Fabry disease. Qual Life Res. 2002;11:317-327.
    • (2002) Qual Life Res , vol.11 , pp. 317-327
    • Gold, K.F.1    Pastores, G.M.2    Botteman, M.F.3
  • 27
    • 0035667062 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
    • Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis. 2001;24:715-724.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 715-724
    • Whybra, C.1    Kampmann, C.2    Willers, I.3
  • 28
    • 33846265851 scopus 로고    scopus 로고
    • Heterozygous Fabry women are not just carriers, but have a signifcant burden of disease and impaired quality of life
    • Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a signifcant burden of disease and impaired quality of life. Genet Med. 2007;9:34-45.
    • (2007) Genet Med , vol.9 , pp. 34-45
    • Wang, R.Y.1    Lelis, A.2    Mirocha, J.3    Wilcox, W.R.4
  • 29
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • Macdermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 30
    • 38049036770 scopus 로고    scopus 로고
    • Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
    • Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112-128.
    • (2008) Mol Genet Metab , vol.93 , pp. 112-128
    • Wilcox, W.R.1    Oliveira, J.P.2    Hopkin, R.J.3
  • 31
    • 33646679166 scopus 로고    scopus 로고
    • Disease manifestations and X inactivation in heterozygous females with Fabry disease
    • Maier EM, Osterrieder S, Whybra C, et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr. 2006;95(Suppl):30-38.
    • (2006) Acta Paediatr , vol.95 , Issue.SUPPL. , pp. 30-38
    • Maier, E.M.1    Osterrieder, S.2    Whybra, C.3
  • 32
    • 11144358101 scopus 로고    scopus 로고
    • The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
    • Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299-307.
    • (2004) Clin Genet , vol.65 , pp. 299-307
    • Whybra, C.1    Kampmann, C.2    Krummenauer, F.3
  • 34
    • 16844377475 scopus 로고    scopus 로고
    • Is globotri-aosylceramide a useful marker in Fabry disease?
    • Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, et al. Is globotri-aosylceramide a useful marker in Fabry disease? Acta Paediatr. 2005;94 (Suppl):51-54.
    • (2005) Acta Paediatr , vol.94 , Issue.SUPPL. , pp. 51-54
    • Young, E.1    Mills, K.2    Morris, P.3    Vellodi, A.4    Lee, P.5    Waldek, S.6
  • 35
    • 33750090709 scopus 로고    scopus 로고
    • The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the effcacy of treatment of Fabry disease: A review of the literature
    • Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the effcacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem. 2006;4:289-297.
    • (2006) Cardiovasc Hematol Agents Med Chem , vol.4 , pp. 289-297
    • Bekri, S.1    Lidove, O.2    Jaussaud, R.3    Knebelmann, B.4    Barbey, F.5
  • 38
    • 33645218156 scopus 로고    scopus 로고
    • Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fbro-blasts and Fabry mice
    • Sakuraba H, Murata-Ohsawa M, Kawashima I, et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fbro-blasts and Fabry mice. J Hum Genet. 2006;51:180-188.
    • (2006) J Hum Genet , vol.51 , pp. 180-188
    • Sakuraba, H.1    Murata-Ohsawa, M.2    Kawashima, I.3
  • 39
    • 0013192938 scopus 로고    scopus 로고
    • A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
    • Lee K, Jin X, Zhang K, et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology. 2003;13:305-313.
    • (2003) Glycobiology , vol.13 , pp. 305-313
    • Lee, K.1    Jin, X.2    Zhang, K.3
  • 40
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743-2749.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin, H.A.3
  • 41
    • 77950519422 scopus 로고    scopus 로고
    • Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
    • Schiffmann R, Martin RA, Reimschisel T, et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr. 2010;156:832-837.
    • (2010) J Pediatr , vol.156 , pp. 832-837
    • Schiffmann, R.1    Martin, R.A.2    Reimschisel, T.3
  • 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
    • 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.
    • (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
    • 38749130497 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa
    • Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa. Heart. 2008;94:153-158.
    • (2008) Heart , vol.94 , pp. 153-158
    • Hughes, D.A.1    Elliott, P.M.2    Shah, J.3
  • 44
    • 65649096032 scopus 로고    scopus 로고
    • Agalsidase alfa and kidney dysfunction in Fabry disease
    • West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. 2009;20:1132-1139.
    • (2009) J Am Soc Nephrol , vol.20 , pp. 1132-1139
    • West, M.1    Nicholls, K.2    Mehta, A.3
  • 45
    • 0035811624 scopus 로고    scopus 로고
    • Safety and effcacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, et al. Safety and effcacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med. 2001;345:9-16.
    • (2001) N Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3
  • 46
    • 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, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18:1547-1557.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 1547-1557
    • Germain, D.P.1    Waldek, S.2    Banikazemi, M.3
  • 47
    • 33846908304 scopus 로고    scopus 로고
    • Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
    • Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146:77-86.
    • (2007) Ann Intern Med , vol.146 , pp. 77-86
    • Banikazemi, M.1    Bultas, J.2    Waldek, S.3
  • 48
    • 72149112208 scopus 로고    scopus 로고
    • Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyo-pathy: A 12- to 36-month, retrospective, blinded echocardiographic pooled analysis
    • Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyo-pathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin Ther. 2009;31:1966-1976.
    • (2009) Clin Ther , vol.31 , pp. 1966-1976
    • Kampmann, C.1    Linhart, A.2    Devereux, R.B.3    Schiffmann, R.4
  • 49
    • 68049134975 scopus 로고    scopus 로고
    • A 4-year study of the effcacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease
    • Whybra C, Miebach E, Mengel E, et al. A 4-year study of the effcacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med. 2009;11:441-449.
    • (2009) Genet Med , vol.11 , pp. 441-449
    • Whybra, C.1    Miebach, E.2    Mengel, E.3
  • 50
    • 0344443401 scopus 로고    scopus 로고
    • Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
    • Schiffmann R, Floeter MK, Dambrosia JM, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve. 2003;28:703-710.
    • (2003) Muscle Nerve , vol.28 , pp. 703-710
    • Schiffmann, R.1    Floeter, M.K.2    Dambrosia, J.M.3
  • 51
    • 33745686659 scopus 로고    scopus 로고
    • Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
    • Schiffmann R, Hauer P, Freeman B, et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve. 2006; 34:53-56.
    • (2006) Muscle Nerve , vol.34 , pp. 53-56
    • Schiffmann, R.1    Hauer, P.2    Freeman, B.3
  • 52
    • 0035949721 scopus 로고    scopus 로고
    • Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
    • Moore DF, Scott LT, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation. 2001;104:1506-1512.
    • (2001) Circulation , vol.104 , pp. 1506-1512
    • Moore, D.F.1    Scott, L.T.2    Gladwin, M.T.3
  • 53
    • 0013155111 scopus 로고    scopus 로고
    • Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
    • Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol. 2002;2:4.
    • (2002) BMC Neurol , vol.2 , pp. 4
    • Moore, D.F.1    Altarescu, G.2    Herscovitch, P.3    Schiffmann, R.4
  • 54
    • 18244397953 scopus 로고    scopus 로고
    • Elevated cerebral blood fow velocities in Fabry disease with reversal after enzyme replacement
    • Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood fow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 2002;33:525-531.
    • (2002) Stroke , vol.33 , pp. 525-531
    • Moore, D.F.1    Altarescu, G.2    Ling, G.S.3
  • 55
    • 3142554529 scopus 로고    scopus 로고
    • Long-term safety and effcacy of enzyme replacement therapy for Fabry disease
    • Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and effcacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004; 75:65-74.
    • (2004) Am J Hum Genet , vol.75 , pp. 65-74
    • Wilcox, W.R.1    Banikazemi, M.2    Guffon, N.3
  • 56
    • 2942562555 scopus 로고    scopus 로고
    • CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy
    • Jardim L, Vedolin L, Schwartz IV, et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis. 2004;27:229-240.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 229-240
    • Jardim, L.1    Vedolin, L.2    Schwartz, I.V.3
  • 57
    • 33750244791 scopus 로고    scopus 로고
    • White matter lesions in Fabry disease before and after enzyme replacement therapy: A 2-year follow-up
    • Jardim LB, Aesse F, Vedolin LM, et al. White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arq Neuropsiquiatr. 2006;64:711-717.
    • (2006) Arq Neuropsiquiatr , vol.64 , pp. 711-717
    • Jardim, L.B.1    Aesse, F.2    Vedolin, L.M.3
  • 58
    • 55249121867 scopus 로고    scopus 로고
    • Central nervous system involvement in Anderson-Fabry disease: A clinical and MRI retrospective study
    • Buechner S, Moretti M, Burlina AP, Cei G, Manara R, Ricci R, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 2008;79: 1249-1254.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 1249-1254
    • Buechner, S.1    Moretti, M.2    Burlina, A.P.3    Cei, G.4    Manara, R.5    Ricci, R.6
  • 60
    • 36148983806 scopus 로고    scopus 로고
    • Vestibular and auditory defcits in Fabry disease and their response to enzyme replacement therapy
    • Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory defcits in Fabry disease and their response to enzyme replacement therapy. J Neurol. 2007;254:1433-1442.
    • (2007) J Neurol , vol.254 , pp. 1433-1442
    • Palla, A.1    Hegemann, S.2    Widmer, U.3    Straumann, D.4
  • 61
    • 0348149005 scopus 로고    scopus 로고
    • Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study
    • Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis. 2003;26:617-627.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 617-627
    • Baehner, F.1    Kampmann, C.2    Whybra, C.3    Miebach, E.4    Wiethoff, C.M.5    Beck, M.6
  • 62
    • 33947687663 scopus 로고    scopus 로고
    • Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
    • Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:184-192.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 184-192
    • Eng, C.M.1    Fletcher, J.2    Wilcox, W.R.3
  • 63
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defned: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A, Ricci R, Widmer U, et al. Fabry disease defned: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242.
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widmer, U.3
  • 64
    • 4344567983 scopus 로고    scopus 로고
    • Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease
    • Dehout F, Roland D, Treille de Granseigne S, Guillaume B, van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J Inherit Metab Dis. 2004;27:499-505.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 499-505
    • Dehout, F.1    Roland, D.2    de Granseigne, S.T.3    Guillaume, B.4    van Maldergem, L.5
  • 65
    • 49549102039 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: Testing the effects with the Mainz Severity Score Index
    • Parini R, Rigoldi M, Santus F, et al. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index. Clin Genet. 2008; 74:260-266.
    • (2008) Clin Genet , vol.74 , pp. 260-266
    • Parini, R.1    Rigoldi, M.2    Santus, F.3
  • 66
    • 71649111830 scopus 로고    scopus 로고
    • Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data
    • Mehta A, Beck M, Elliott P, et al; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet. 2009;374:1986-1996.
    • (2009) Lancet , vol.374 , pp. 1986-1996
    • Mehta, A.1    Beck, M.2    Elliott, P.3
  • 67
  • 68
    • 33644524081 scopus 로고    scopus 로고
    • Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with a galactosidase A
    • Elliott PM, Kindler H, Shah JS, et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with a galactosidase A. Heart. 2006;92:357-360.
    • (2006) Heart , vol.92 , pp. 357-360
    • Elliott, P.M.1    Kindler, H.2    Shah, J.S.3
  • 69
    • 33645694070 scopus 로고    scopus 로고
    • The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease
    • Kalliokoski RJ, Kantola I, Kalliokoski KK, et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis. 2006;29:112-118.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 112-118
    • Kalliokoski, R.J.1    Kantola, I.2    Kalliokoski, K.K.3
  • 70
    • 0141765881 scopus 로고    scopus 로고
    • Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
    • Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108:1299-1301.
    • (2003) Circulation , vol.108 , pp. 1299-1301
    • Weidemann, F.1    Breunig, F.2    Beer, M.3    Sandstede, J.4    Turschner, O.5    Voelker, W.6
  • 71
    • 4344713083 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
    • Spinelli L, Pisani A, Sabbatini M, Petretta M, Andreucci M V, Procaccini D, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet. 2004;66:158-165.
    • (2004) Clin Genet , vol.66 , pp. 158-165
    • Spinelli, L.1    Pisani, A.2    Sabbatini, M.3    Petretta, M.4    Andreucci, M.V.5    Procaccini, D.6
  • 72
    • 33646173913 scopus 로고    scopus 로고
    • Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy
    • Beer M, Weidemann F, Breunig F, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol. 2006;97:1515-1518.
    • (2006) Am J Cardiol , vol.97 , pp. 1515-1518
    • Beer, M.1    Weidemann, F.2    Breunig, F.3
  • 73
    • 61349177862 scopus 로고    scopus 로고
    • Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: Evidence for a better outcome with early treatment
    • Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119:524-529.
    • (2009) Circulation , vol.119 , pp. 524-529
    • Weidemann, F.1    Niemann, M.2    Breunig, F.3
  • 74
    • 67649583702 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: A prospective long term cardiac magnetic resonance imaging study
    • Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: a prospective long term cardiac magnetic resonance imaging study. Heart. 2009;95:1103-1107.
    • (2009) Heart , vol.95 , pp. 1103-1107
    • Imbriaco, M.1    Pisani, A.2    Spinelli, L.3
  • 75
    • 1842423556 scopus 로고    scopus 로고
    • Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fbers in Fabry neuropathy
    • Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fbers in Fabry neuropathy. Neurology. 2004;62:1066-1072.
    • (2004) Neurology , vol.62 , pp. 1066-1072
    • Hilz, M.J.1    Brys, M.2    Marthol, H.3    Stemper, B.4    Dutsch, M.5
  • 76
    • 33847198320 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
    • Ramaswami U, Wendt S, Pintos-Morell G, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 2007;96:122-127.
    • (2007) Acta Paediatr , vol.96 , pp. 122-127
    • Ramaswami, U.1    Wendt, S.2    Pintos-Morell, G.3
  • 77
    • 40849094670 scopus 로고    scopus 로고
    • Safety and effcacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease
    • Wraith JE, Tylki-Szymanska A, Guffon N, et al. Safety and effcacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008;152:563-570.
    • (2008) J Pediatr , vol.152 , pp. 563-570
    • Wraith, J.E.1    Tylki-Szymanska, A.2    Guffon, N.3
  • 78
    • 39549116083 scopus 로고    scopus 로고
    • Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
    • Vedder AC, Linthorst GE, Houge G, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE. 2007;2:e598.
    • (2007) PLoS ONE , vol.2 , pp. 598
    • Vedder, A.C.1    Linthorst, G.E.2    Houge, G.3
  • 79
    • 51749091523 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: Comparison of agalsi-dase alfa and agalsidase beta
    • Mehta A, Beck M, Kampmann C, Frustaci A, Germain DP, Pastores GM, et al. Enzyme replacement therapy in Fabry disease: comparison of agalsi-dase alfa and agalsidase beta. Mol Genet Metab. 2008;95:114-115.
    • (2008) Mol Genet Metab , vol.95 , pp. 114-115
    • Mehta, A.1    Beck, M.2    Kampmann, C.3    Frustaci, A.4    Germain, D.P.5    Pastores, G.M.6
  • 80
    • 34548033303 scopus 로고    scopus 로고
    • The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease
    • Clarke JT, West ML, Bultas J, Schiffmann R. The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease. Genet Med. 2007;9:504-509.
    • (2007) Genet Med , vol.9 , pp. 504-509
    • Clarke, J.T.1    West, M.L.2    Bultas, J.3    Schiffmann, R.4
  • 81
    • 34248138939 scopus 로고    scopus 로고
    • Weekly enzyme replacement may show decline of renal function in patients with Fabry disease who are on long term biweekly dosing
    • Schiffmann R, Askari H, Timmons M, et al. Weekly enzyme replacement may show decline of renal function in patients with Fabry disease who are on long term biweekly dosing. J Am Soc Nephrol. 2007;18:1576-1583.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 1576-1583
    • Schiffmann, R.1    Askari, H.2    Timmons, M.3
  • 82
    • 70349316414 scopus 로고    scopus 로고
    • Evaluation of a low dose after a standard therapeutic dose of agasidase beta during enzyme replacement therapy in patient with Fabry disease
    • Lubanda JC, Anijala E, Bzduch V, et al. Evaluation of a low dose after a standard therapeutic dose of agasidase beta during enzyme replacement therapy in patient with Fabry disease. Genet Med. 209;11:256-264.
    • Genet Med , vol.209 , Issue.11 , pp. 256-264
    • Lubanda, J.C.1    Anijala, E.2    Bzduch, V.3
  • 83
  • 84
  • 85
    • 44949248124 scopus 로고    scopus 로고
    • Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
    • Vedder AC, Breunig F, Donker-Koopman WE, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab. 2008;94:319-325.
    • (2008) Mol Genet Metab , vol.94 , pp. 319-325
    • Vedder, A.C.1    Breunig, F.2    Donker-Koopman, W.E.3
  • 86
    • 57649139284 scopus 로고    scopus 로고
    • Immune response to enzyme replacement therapy in Fabry disease: Impact on clinical outcome?
    • Hollack CE, Linthorst GE. Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome? Mol Genet Metab. 2009; 96:1-3.
    • (2009) Mol Genet Metab , vol.96 , pp. 1-3
    • Hollack, C.E.1    Linthorst, G.E.2
  • 88
    • 62949147825 scopus 로고    scopus 로고
    • European Medicines Agency. http://www.ema.europa.eu/docs/en_GB/document_library/Press_release/2010/07/WC500094245.pdf
    • European Medicines Agency
  • 89
    • 49249133737 scopus 로고    scopus 로고
    • Home-based infusion therapy for patients with Fabry disease
    • Cousins A, Lee P, Rorman D, et al. Home-based infusion therapy for patients with Fabry disease. Br J Nurs. 2008;17:653-657.
    • (2008) Br J Nurs , vol.17 , pp. 653-657
    • Cousins, A.1    Lee, P.2    Rorman, D.3
  • 90
    • 33646845939 scopus 로고    scopus 로고
    • Intravenous enzyme replacement therapy: Better in home or hospital?
    • Milligan A, Hughes D, Goodwin S, Richfeld L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006; 15:330-333.
    • (2006) Br J Nurs , vol.15 , pp. 330-333
    • Milligan, A.1    Hughes, D.2    Goodwin, S.3    Richfeld, L.4    Mehta, A.5
  • 91
    • 42449099449 scopus 로고    scopus 로고
    • Home therapy for lysosomal storage disorders
    • Hughes DA, Mlilligan A, Mehta A. Home therapy for lysosomal storage disorders. Br J Nurs. 2007;16:1384-1389.
    • (2007) Br J Nurs , vol.16 , pp. 1384-1389
    • Hughes, D.A.1    Mlilligan, A.2    Mehta, A.3
  • 92
    • 34548474768 scopus 로고    scopus 로고
    • Antiproteinuric therapy and Fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
    • Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol. 2007; 18:2609-2617.
    • (2007) J Am Soc Nephrol , vol.18 , pp. 2609-2617
    • Tahir, H.1    Jackson, L.L.2    Warnock, D.G.3
  • 93
    • 37349013379 scopus 로고    scopus 로고
    • A counterintuitive approach to treat enzyme defciencies: Use of enzyme inhibitors for restoring mutant enzyme activity
    • Fan JQ. A counterintuitive approach to treat enzyme defciencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem. 2008; 389:1-11.
    • (2008) Biol Chem , vol.389 , pp. 1-11
    • Fan, J.Q.1
  • 95
    • 33846436061 scopus 로고    scopus 로고
    • Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N- butyldeoxynojirimycin treatment
    • Heare T, Alp NJ, Priestman DA, et al. Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N- butyldeoxynojirimycin treatment. J Inherit Metab Dis. 2007;30:79-87.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 79-87
    • Heare, T.1    Alp, N.J.2    Priestman, D.A.3


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