메뉴 건너뛰기




Volumn 52, Issue 4, 2011, Pages 316-326

Anderson-Fabry disease: A cardiomyopathy that can be cured

Author keywords

Anderson Fabry disease; Enzyme replacement therapy; Fabry; Hypertrophic cardiomyopathy

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ANGIOTENSIN RECEPTOR ANTAGONIST; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

EID: 79961150434     PISSN: 10117970     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (10)

References (77)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • A-galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York: McGraw-Hill 8th Eds
    • Desnick RJ, Ioannou YA, Eng CM. a-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular Bases of inherited disease. 8th ed. Vol 3. New York: McGraw-Hill, 2001: p. 3733-3774.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.3 , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 2
    • 0035852488 scopus 로고    scopus 로고
    • Anderson-Fabry's disease: Alpha-galactosidase deficiency
    • Peters FP, Vermeulen A, Kho TL. Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001; 357: 138-140.
    • (2001) Lancet , vol.357 , pp. 138-140
    • Peters, F.P.1    Vermeulen, A.2    Kho, T.L.3
  • 3
    • 0033950217 scopus 로고    scopus 로고
    • Profile of endothelial and leukocyte activation in Fabry patients
    • DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000; 47: 229-233.
    • (2000) Ann Neurol , vol.47 , pp. 229-233
    • Degraba, T.1    Azhar, S.2    Dignat-George, F.3
  • 4
    • 73349136303 scopus 로고    scopus 로고
    • Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
    • Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009; 30: 1397-1405.
    • (2009) Hum Mutat , vol.30 , pp. 1397-1405
    • Hwu, W.L.1    Chien, Y.H.2    Lee, N.C.3
  • 5
    • 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
  • 6
    • 0025049304 scopus 로고
    • Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease
    • Report on a case simulating hypertrophic non-obstructive cardiomyopathy
    • Elleder M, Bradová V, Smíd F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol. 1990; 417: 449-455.
    • (1990) Virchows Arch a Pathol Anat Histopathol , vol.417 , pp. 449-455
    • Elleder, M.1    Bradová, V.2    Smíd, F.3
  • 7
    • 0026099642 scopus 로고
    • An atypical variant of Fabry's disease with manifestations confined to the myocardium
    • von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991; 324: 395-399.
    • (1991) N Engl J Med , vol.324 , pp. 395-399
    • von Scheidt, W.1    Eng, C.M.2    Fitzmaurice, T.F.3
  • 8
    • 34247327312 scopus 로고    scopus 로고
    • The heart in Anderson-Fabry disease and other lysosomal storage disorders
    • Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007; 93: 528-535.
    • (2007) Heart , vol.93 , pp. 528-535
    • Linhart, A.1    Elliott, P.M.2
  • 9
    • 33646680506 scopus 로고    scopus 로고
    • Cardiac and vascular hypertrophy in Fabry disease: Evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition
    • Barbey F, Brakch N, Linhart A, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol. 2006; 26: 839-844.
    • (2006) Arterioscler Thromb Vasc Biol , vol.26 , pp. 839-844
    • Barbey, F.1    Brakch, N.2    Linhart, A.3
  • 10
    • 42949119819 scopus 로고    scopus 로고
    • Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    • Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008; 105: 2812-2817.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2812-2817
    • Aerts, J.M.1    Groener, J.E.2    Kuiper, S.3
  • 11
    • 53749095321 scopus 로고    scopus 로고
    • Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
    • Shen JS, Meng XL, Moore DF, et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab. 2008; 95: 163-168.
    • (2008) Mol Genet Metab , vol.95 , pp. 163-168
    • Shen, J.S.1    Meng, X.L.2    Moore, D.F.3
  • 12
    • 0032580792 scopus 로고    scopus 로고
    • 31P NMR spectroscopy detects metabolic abnormalities in asymptomatic patients with hypertrophic cardiomyopathy
    • Jung WI, Sieverding L, Breuer J, et al. 31P NMR spectroscopy detects metabolic abnormalities in asymptomatic patients with hypertrophic cardiomyopathy. Circulation 1998; 97: 2536-2542.
    • (1998) Circulation , vol.97 , pp. 2536-2542
    • Jung, W.I.1    Sieverding, L.2    Breuer, J.3
  • 13
    • 1942503219 scopus 로고    scopus 로고
    • Fabry disease: Reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts
    • Lücke T, Höppner W, Schmidt E, Illsinger S, Das AM. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab. 2004; 82: 93-97.
    • (2004) Mol Genet Metab , vol.82 , pp. 93-97
    • Lücke, T.1    Höppner, W.2    Schmidt, E.3    Illsinger, S.4    Das, A.M.5
  • 14
    • 0023758733 scopus 로고
    • Anderson-Fabry disease
    • Morgan SH, Crawfurd MA. Anderson-Fabry disease. BMJ. 1988; 297: 872-873.
    • (1988) BMJ , vol.297 , pp. 872-873
    • Morgan, S.H.1    Crawfurd, M.A.2
  • 16
    • 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
  • 17
    • 34548316207 scopus 로고    scopus 로고
    • Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey
    • Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007; 28: 1228-1235.
    • (2007) Eur Heart J , vol.28 , pp. 1228-1235
    • Linhart, A.1    Kampmann, C.2    Zamorano, J.L.3
  • 18
    • 0035149822 scopus 로고    scopus 로고
    • Cardiac manifestations in Fabry disease
    • Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001; 24 Suppl 2: 75-83.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 75-83
    • Linhart, A.1    Lubanda, J.C.2    Palecek, T.3
  • 19
    • 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: 1101-1108.
    • (2000) Am Heart J , vol.139 , pp. 1101-1108
    • Linhart, A.1    Palecek, T.2    Bultas, J.3
  • 20
    • 20844452038 scopus 로고    scopus 로고
    • The variation of morphological and 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 and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J. 2005; 26: 1221-1227.
    • (2005) Eur Heart J , vol.26 , pp. 1221-1227
    • Weidemann, F.1    Breunig, F.2    Beer, M.3
  • 22
    • 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
  • 23
    • 19944377541 scopus 로고    scopus 로고
    • Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
    • Kalliokoski RJ, Kalliokoski KK, Sundell J, et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis. 2005; 28: 563-573.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 563-573
    • Kalliokoski, R.J.1    Kalliokoski, K.K.2    Sundell, J.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: 357-360.
    • (2006) Heart , vol.92 , pp. 357-360
    • Elliott, P.M.1    Kindler, H.2    Shah, J.S.3
  • 25
    • 43949098964 scopus 로고    scopus 로고
    • Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study
    • Takenaka T, Teraguchi H, Yoshida A, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol. 2008; 51: 50-59.
    • (2008) J Cardiol , vol.51 , pp. 50-59
    • Takenaka, T.1    Teraguchi, H.2    Yoshida, A.3
  • 26
    • 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: 842-846.
    • (2005) Am J Cardiol , vol.96 , pp. 842-846
    • Shah, J.S.1    Hughes, D.A.2    Sachdev, B.3
  • 27
    • 40649100317 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: The genetic determinants of clinical disease expression
    • Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008; 5: 158-168.
    • (2008) Nat Clin Pract Cardiovasc Med , vol.5 , pp. 158-168
    • Keren, A.1    Syrris, P.2    McKenna, W.J.3
  • 28
    • 0036980815 scopus 로고    scopus 로고
    • Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy
    • Kampmann C, Wiethoff CM, Martin C, et al. Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy. Acta Paediatr Suppl. 2002; 91: 21-27.
    • (2002) Acta Paediatr Suppl , vol.91 , pp. 21-27
    • Kampmann, C.1    Wiethoff, C.M.2    Martin, C.3
  • 29
    • 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: 288-293.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 30
    • 0025066073 scopus 로고
    • Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease
    • Ogawa K, Sugamata K, Funamoto N, et al. Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. Hum Pathol. 1990; 21: 1067-1073.
    • (1990) Hum Pathol , vol.21 , pp. 1067-1073
    • Ogawa, K.1    Sugamata, K.2    Funamoto, N.3
  • 31
    • 0025971051 scopus 로고
    • Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A
    • Nagao Y, Nakashima H, Fukuhara Y, et al. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. Clin Genet. 1991; 39: 233-237.
    • (1991) Clin Genet , vol.39 , pp. 233-237
    • Nagao, Y.1    Nakashima, H.2    Fukuhara, Y.3
  • 32
    • 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
  • 33
    • 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
  • 34
    • 33845468208 scopus 로고    scopus 로고
    • Electrophysiological study in a patient with Fabry disease and a short PQ interval
    • Jastrzebski M, Bacior B, Dimitrow PP, Kawecka-Jaszcz K. Electrophysiological study in a patient with Fabry disease and a short PQ interval. Europace. 2006; 8: 1045-1047.
    • (2006) Europace , vol.8 , pp. 1045-1047
    • Jastrzebski, M.1    Bacior, B.2    Dimitrow, P.P.3    Kawecka-Jaszcz, K.4
  • 35
    • 0019442765 scopus 로고
    • Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A wide angle two-dimensional echocardiographic study of 125 patients
    • Maron BJ, Gottdiener JS, Epstein SE. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a wide angle two-dimensional echocardiographic study of 125 patients. Am J Cardiol. 1981; 48: 418-428.
    • (1981) Am J Cardiol , vol.48 , pp. 418-428
    • Maron, B.J.1    Gottdiener, J.S.2    Epstein, S.E.3
  • 37
    • 58849151159 scopus 로고    scopus 로고
    • Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy
    • Toro R, Perez-Isla L, Doxastaquis G, et al. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol. 2009; 132: 38-44.
    • (2009) Int J Cardiol , vol.132 , pp. 38-44
    • Toro, R.1    Perez-Isla, L.2    Doxastaquis, G.3
  • 38
    • 37149013595 scopus 로고    scopus 로고
    • A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium
    • Weidemann F, Niemann M, Herrmann S, et al. A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium. Eur Heart J. 2007; 28: 3020-3026.
    • (2007) Eur Heart J , vol.28 , pp. 3020-3026
    • Weidemann, F.1    Niemann, M.2    Herrmann, S.3
  • 39
    • 63049111133 scopus 로고    scopus 로고
    • Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy
    • De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol. 2009; 192: W97-102.
    • (2009) AJR Am J Roentgenol , vol.192 , pp. 97-102
    • de Cobelli, F.1    Esposito, A.2    Belloni, E.3
  • 40
    • 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: 1299-1301.
    • (2003) Circulation , vol.108 , pp. 1299-1301
    • Weidemann, F.1    Breunig, F.2    Beer, M.3
  • 41
    • 0142185106 scopus 로고    scopus 로고
    • Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
    • Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab. 2003; 80: 307-314.
    • (2003) Mol Genet Metab , vol.80 , pp. 307-314
    • Froissart, R.1    Guffon, N.2    Vanier, M.T.3    Desnick, R.J.4    Maire, I.5
  • 42
    • 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: 1047-1053.
    • (2004) Circulation , vol.110 , pp. 1047-1053
    • Chimenti, C.1    Pieroni, M.2    Morgante, E.3
  • 43
    • 0032812049 scopus 로고    scopus 로고
    • Biopsy-proven cardiomyopathy in heterozygous Fabry's disease
    • Koitabashi, Nutsugi, Seki et al. Biopsy-proven cardiomyopathy in heterozygous Fabry's disease. Jpn Circ J. 1999; 63: 572-575.
    • (1999) Jpn Circ J , vol.63 , pp. 572-575
    • Koitabashi, N.S.1
  • 45
    • 0027201108 scopus 로고
    • Mutation analysis in patients with the typical form of Anderson-Fabry disease
    • Davies JP, Winchester BG, Malcolm S. Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet. 1993; 2: 1051-1053.
    • (1993) Hum Mol Genet , vol.2 , pp. 1051-1053
    • Davies, J.P.1    Winchester, B.G.2    Malcolm, S.3
  • 46
    • 37449005523 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
    • Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007; 50: 2399-2403.
    • (2007) J Am Coll Cardiol , vol.50 , pp. 2399-2403
    • Monserrat, L.1    Gimeno-Blanes, J.R.2    Marín, F.3
  • 47
    • 33845986344 scopus 로고    scopus 로고
    • A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population
    • Merta M, Reiterova J, Ledvinova J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant. 2007; 22: 179-186.
    • (2007) Nephrol Dial Transplant , vol.22 , pp. 179-186
    • Merta, M.1    Reiterova, J.2    Ledvinova, J.3
  • 48
    • 39149133142 scopus 로고    scopus 로고
    • Diagnosis of Fabry disease via analysis of family history
    • Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008; 17: 79-83.
    • (2008) J Genet Couns , vol.17 , pp. 79-83
    • Laney, D.A.1    Fernhoff, P.M.2
  • 49
  • 50
    • 79961145521 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Toutouzas P, Stefanadis C, Boudoulas H, editors
    • Anastasakis A, Sharma S, McKenna W. Hypertrophic cardiomyopathy. In: Toutouzas P, Stefanadis C, Boudoulas H, editors. Cardiology textbook. 2001.
    • (2001) Cardiology Textbook
    • Anastasakis, A.1    Sharma, S.2    McKenna, W.3
  • 51
    • 0032491161 scopus 로고    scopus 로고
    • Restrictive cardiomyopathy secondary to Fabry's disease
    • Cantor WJ, Butany J, Iwanochko M, Liu P. Restrictive cardiomyopathy secondary to Fabry's disease. Circulation. 1998; 98: 1457-1459.
    • (1998) Circulation , vol.98 , pp. 1457-1459
    • Cantor, W.J.1    Butany, J.2    Iwanochko, M.3    Liu, P.4
  • 52
    • 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: 1407-1411.
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3
  • 53
    • 0042668483 scopus 로고    scopus 로고
    • Fabry disease: A mimic for obstructive hypertrophic cardiomyopathy?
    • Ommen SR, Nishimura RA, Edwards WD. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart. 2003; 89: 929-930.
    • (2003) Heart , vol.89 , pp. 929-930
    • Ommen, S.R.1    Nishimura, R.A.2    Edwards, W.D.3
  • 54
    • 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
    • Vedder, A.C.1    Linthorst, G.E.2    Houge, G.3
  • 55
    • 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
  • 56
    • 38749130497 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, 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 randomised, 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
  • 57
    • 33746882747 scopus 로고    scopus 로고
    • Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease
    • Bierer G, Balfe D, Wilcox WR, Mosenifar Z. Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis. 2006; 29: 572-579.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 572-579
    • Bierer, G.1    Balfe, D.2    Wilcox, W.R.3    Mosenifar, Z.4
  • 58
    • 20544452974 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease patients undergoing dialysis: Effects on quality of life and organ involvement
    • Pisani A, Spinelli L, Sabbatini M, et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. Am J Kidney Dis. 2005; 46: 120-127.
    • (2005) Am J Kidney Dis , vol.46 , pp. 120-127
    • Pisani, A.1    Spinelli, L.2    Sabbatini, M.3
  • 59
    • 33645528253 scopus 로고    scopus 로고
    • Clinical benefit of enzyme replacement therapy in Fabry disease
    • Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006; 69: 1216-1221.
    • (2006) Kidney Int , vol.69 , pp. 1216-1221
    • Breunig, F.1    Weidemann, F.2    Strotmann, J.3    Knoll, A.4    Wanner, C.5
  • 60
    • 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
  • 61
    • 71649111830 scopus 로고    scopus 로고
    • 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. 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
  • 62
    • 45849123200 scopus 로고    scopus 로고
    • Twenty-fourmonth alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters
    • Koskenvuo JW, Hartiala JJ, Nuutila P, et al. Twenty-fourmonth alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis. 2008; 31: 432-441.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 432-441
    • Koskenvuo, J.W.1    Hartiala, J.J.2    Nuutila, P.3
  • 63
    • 33646199864 scopus 로고    scopus 로고
    • Images in cardiovascular medicine
    • Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease
    • Hasegawa H, Takano H, Shindo S, et al. Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease. Circulation. 2006; 113: e720-721.
    • (2006) Circulation , vol.113
    • Hasegawa, H.1    Takano, H.2    Shindo, S.3
  • 64
    • 54949143668 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Long-term echocardiographic follow- up under enzyme replacement therapy
    • Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH, et al. Anderson-Fabry disease: long-term echocardiographic follow- up under enzyme replacement therapy. Eur J Echocardiogr. 2008; 9: 729-735.
    • (2008) Eur J Echocardiogr , vol.9 , pp. 729-735
    • Kovacevic-Preradovic, T.1    Zuber, M.2    Attenhofer, J.C.H.3
  • 65
    • 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
  • 66
    • 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
  • 67
    • 78649634506 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy in Fabry disease-a comprehensive review of the medical literature
    • Lidove O, West ML, Pintos-Morell G, et al. Effects of enzyme replacement therapy in Fabry disease-a comprehensive review of the medical literature. Genet Med. 2010; 12: 668-679.
    • (2010) Genet Med , vol.12 , pp. 668-679
    • Lidove, O.1    West, M.L.2    Pintos-Morell, G.3
  • 68
    • 34248190164 scopus 로고    scopus 로고
    • Sustained, longterm renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    • Germain DP, Waldek S, Banikazemi M, et al. Sustained, longterm 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
  • 69
    • 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 IIIr, H.A.3
  • 70
    • 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
  • 71
    • 44649172457 scopus 로고    scopus 로고
    • Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease
    • Ohashi T, Iizuka S, Ida H, Eto Y. Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab. 2008; 94: 313-318.
    • (2008) Mol Genet Metab , vol.94 , pp. 313-318
    • Ohashi, T.1    Iizuka, S.2    Ida, H.3    Eto, Y.4
  • 72
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003; 138: 338-346.
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3
  • 73
    • 0033166317 scopus 로고    scopus 로고
    • Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer
    • Ziegler RJ, Yew NS, Li C, et al. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther. 1999; 10: 1667-1682.
    • (1999) Hum Gene Ther , vol.10 , pp. 1667-1682
    • Ziegler, R.J.1    Yew, N.S.2    Li, C.3
  • 74
    • 0036000329 scopus 로고    scopus 로고
    • Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease
    • Ziegler RJ, Li C, Cherry M, et al. Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. Hum Gene Ther. 2002; 13: 935-945.
    • (2002) Hum Gene Ther , vol.13 , pp. 935-945
    • Ziegler, R.J.1    Li, C.2    Cherry, M.3
  • 75
    • 10744219813 scopus 로고    scopus 로고
    • AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice
    • Ziegler RJ, Lonning SM, Armentano D, et al. AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther. 2004; 9: 231-240.
    • (2004) Mol Ther , vol.9 , pp. 231-240
    • Ziegler, R.J.1    Lonning, S.M.2    Armentano, D.3
  • 76
    • 4043154034 scopus 로고    scopus 로고
    • Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
    • Przybylska M, Wu IH, Zhao H, et al. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors. J Gene Med. 2004; 6: 85-92.
    • (2004) J Gene Med , vol.6 , pp. 85-92
    • Przybylska, M.1    Wu, I.H.2    Zhao, H.3
  • 77
    • 33748746594 scopus 로고    scopus 로고
    • Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
    • Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006; 8: 539-548.
    • (2006) Genet Med , vol.8 , pp. 539-548
    • Eng, C.M.1    Germain, D.P.2    Banikazemi, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.