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Volumn 2, Issue 3, 2006, Pages 355-365

Fabry disease: A systemic disease;Maladie de Fabry: Maladie systémique

Author keywords

Enzyme replacement therapy; Fabry disease; Hypertrophic cardiomyopathy; Pedigree

Indexed keywords

ECHOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME REPLACEMENT; FABRY DISEASE; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; NONHUMAN; PEDIGREE; PHENOTYPE; REVIEW; SYSTEMIC DISEASE; X CHROMOSOME LINKED DISORDER;

EID: 33746891524     PISSN: 17748747     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (42)
  • 1
    • 0029891216 scopus 로고    scopus 로고
    • Cerebrovascular complications of Fabry's disease
    • Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996; 40: 8-17.
    • (1996) Ann Neurol , vol.40 , pp. 8-17
    • Mitsias, P.1    Levine, S.R.2
  • 3
    • 0024274094 scopus 로고
    • Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy
    • Tanaka H, Adachi K, Yamashita Y, Toshima H, Koga Y. Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy. J Cardiol 1988; 18: 705-18.
    • (1988) J Cardiol , vol.18 , pp. 705-718
    • Tanaka, H.1    Adachi, K.2    Yamashita, Y.3    Toshima, H.4    Koga, Y.5
  • 4
    • 0343618421 scopus 로고    scopus 로고
    • New insights in cardiac structural changes in patients with Fabry's disease
    • Linhart A, Palecek T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000; 139: 1101-8.
    • (2000) Am Heart J , vol.139 , pp. 1101-1108
    • Linhart, A.1    Palecek, T.2    Bultas, J.3
  • 5
    • 1642363460 scopus 로고    scopus 로고
    • Hypertrophic obstructive cardiomyopathy
    • Nishimura RA, Holmes Jr. DR. Hypertrophic Obstructive Cardiomyopathy. N Engl J Med 2004; 350: 1320-7.
    • (2004) N Engl J Med , vol.350 , pp. 1320-1327
    • Nishimura, R.A.1    Holmes Jr., D.R.2
  • 6
    • 4544344055 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
    • Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 2004; 110: 1047-53.
    • (2004) Circulation , vol.110 , pp. 1047-1053
    • Chimenti, C.1    Pieroni, M.2    Morgante, E.3
  • 7
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288-93.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 8
    • 19944434362 scopus 로고    scopus 로고
    • Glycogen storage diseases presenting as hypertrophic cardiomyopathy
    • Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352: 362-72.
    • (2005) N Engl J Med , vol.352 , pp. 362-372
    • Arad, M.1    Maron, B.J.2    Gorham, J.M.3
  • 9
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-11.
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3
  • 10
    • 20844452038 scopus 로고    scopus 로고
    • The variation of morphological functional cardiac manifestation in Fabry disease: Potential implications for the time course of the disease
    • Weidemann F, Breunig F, Beer M, et al. The variation of morphological functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 2005; 26: 1221-7.
    • (2005) Eur Heart J , vol.26 , pp. 1221-1227
    • Weidemann, F.1    Breunig, F.2    Beer, M.3
  • 11
    • 0344430257 scopus 로고    scopus 로고
    • Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease
    • Moon JCC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Eur Heart J 2003; 24: 2151-5.
    • (2003) Eur Heart J , vol.24 , pp. 2151-2155
    • Moon, J.C.C.1    Sachdev, B.2    Elkington, A.G.3
  • 14
    • 0021060999 scopus 로고
    • Two dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: A function of ultrastructural analogy?
    • Cohen IS, Fluri-Lundeen J, Wharton TP. Two dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: a function of ultrastructural analogy? J Clin Ultrasound 1983; 11: 437-41.
    • (1983) J Clin Ultrasound , vol.11 , pp. 437-441
    • Cohen, I.S.1    Fluri-Lundeen, J.2    Wharton, T.P.3
  • 15
    • 0025049304 scopus 로고
    • Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: Report on a case simulating non-obstructive cardiomyopathy
    • Elleder M, Bradova V, Smid F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: report on a case simulating non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 1990; 417: 449-55.
    • (1990) Virchows Arch A Pathol Anat Histopathol , vol.417 , pp. 449-455
    • Elleder, M.1    Bradova, V.2    Smid, F.3
  • 17
    • 0022654934 scopus 로고
    • Cardiovascular manifestations in Fabry's disease
    • Sakuraba H, Yanagawa Y, Igarashi T, et al. Cardiovascular manifestations in Fabry's disease. Clin Genet 1986; 29: 276-83.
    • (1986) Clin Genet , vol.29 , pp. 276-283
    • Sakuraba, H.1    Yanagawa, Y.2    Igarashi, T.3
  • 19
    • 0242487692 scopus 로고    scopus 로고
    • The early clinical phenotype of Fabry disease: A study of 35 european children and adolescents
    • Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: a study of 35 european children and adolescents. Eur J Pediatr 2003; 162: 767-72.
    • (2003) Eur J Pediatr , vol.162 , pp. 767-772
    • Ries, M.1    Ramaswami, U.2    Parini, R.3
  • 21
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin 3rd HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-9.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin III, H.A.3
  • 22
    • 24944513802 scopus 로고    scopus 로고
    • Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease
    • Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005; 96: 842-6.
    • (2005) Am J Cardiol , vol.96 , pp. 842-846
    • Shah, J.S.1    Hughes, D.A.2    Sachdev, B.3
  • 23
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
    • Mac Dermot KD, Holmes H, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 769-75.
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • Mac Dermot, K.D.1    Holmes, H.2    Miners, A.H.3
  • 24
    • 33644524081 scopus 로고    scopus 로고
    • Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha 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 alpha galactosidase A. Heart 2006; 92: 357-60.
    • (2006) Heart , vol.92 , pp. 357-360
    • Elliott, P.M.1    Kindler, H.2    Shah, J.S.3
  • 27
    • 25444446897 scopus 로고    scopus 로고
    • The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease
    • Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease. Medicine 2005; 84: 261-8.
    • (2005) Medicine , vol.84 , pp. 261-268
    • Gupta, S.1    Ries, M.2    Kotsopoulos, S.3    Schiffmann, R.4
  • 30
    • 16844377475 scopus 로고    scopus 로고
    • Is globotriaosylceramide a useful biomarker in Fabry disease?
    • Young E, Mills K, Morris B, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005; 94: 51-4.
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 51-54
    • Young, E.1    Mills, K.2    Morris, B.3
  • 32
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-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
  • 33
    • 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, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003; 108: 1299-301.
    • (2003) Circulation , vol.108 , pp. 1299-1301
    • Weidemann, F.1    Breunig, F.2    Beer, M.3
  • 34
    • 4344713083 scopus 로고    scopus 로고
    • Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
    • Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 2004; 66: 158-65.
    • (2004) Clin Genet , vol.66 , pp. 158-165
    • Spinelli, L.1    Pisani, A.2    Sabbatini, M.3
  • 35
    • 0348149005 scopus 로고    scopus 로고
    • Enzyme replacement therapy in heterozygous females with Fabry disease: Results of aphase 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 aphase IIIB study. J Inherit Metab Dis 2003; 26: 617-27.
    • (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
  • 36
    • 0037456761 scopus 로고    scopus 로고
    • PR interval and the response to enzyme-replacement therapy in Fabry's disease
    • Waldek S. PR interval and the response to enzyme-replacement therapy in Fabry's disease. N Engl J Med 2003; 348: 1186-7.
    • (2003) N Engl J Med , vol.348 , pp. 1186-1187
    • Waldek, S.1
  • 37
    • 0035811674 scopus 로고    scopus 로고
    • Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
    • Frustaci A, Chimenti C, Ricci R, et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 2001; 345: 25-32.
    • (2001) N Engl J Med , vol.345 , pp. 25-32
    • Frustaci, A.1    Chimenti, C.2    Ricci, R.3
  • 38
    • 3142554529 scopus 로고    scopus 로고
    • Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    • Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy 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
  • 39
    • 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, et al. 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: 345-54.
    • (2006) Nephrol Dial Transplant , vol.21 , pp. 345-354
    • Schiffmann, R.1    Ries, M.2    Timmons, M.3
  • 40
    • 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: 1506-12.
    • (2001) Circulation , vol.104 , pp. 1506-1512
    • Moore, D.F.1    Scott, L.T.2    Gladwin, M.T.3
  • 41
    • 0036260323 scopus 로고    scopus 로고
    • Quality of life of patients with Fabry disease
    • Gold KF, Pastures GM, Botteman MF, et al. Quality of life of patients with Fabry disease. Qual Life Res 2002; 11: 317-27.
    • (2002) Qual Life Res , vol.11 , pp. 317-327
    • Gold, K.F.1    Pastures, G.M.2    Botteman, M.F.3
  • 42
    • 15844371614 scopus 로고    scopus 로고
    • The natural history of left ventricular systolic function in Anderson-Fabry disease
    • Shah JS, Lee P, Hughes D, et al. The natural history of left ventricular systolic function in Anderson-Fabry disease. Heart 2005; 91: 533-4.
    • (2005) Heart , vol.91 , pp. 533-534
    • Shah, J.S.1    Lee, P.2    Hughes, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.