-
1
-
-
0029891216
-
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
-
2
-
-
0019120413
-
The M-mode echocardiogram in Fabry's disease
-
Bass JL, Shrivastava S, Grabowski GA, Desnick RJ, Moller JH. The M-mode echocardiogram in Fabry's disease. Am Heart J 1980; 100: 807-12.
-
(1980)
Am Heart J
, vol.100
, pp. 807-812
-
-
Bass, J.L.1
Shrivastava, S.2
Grabowski, G.A.3
Desnick, R.J.4
Moller, J.H.5
-
3
-
-
0024274094
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
16
-
-
0022578120
-
Echocardiographic abnormalities and severity in Fabry's disease
-
Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and severity in Fabry's disease. J Am Coll Cardiol 1986; 7: 1157-61.
-
(1986)
J Am Coll Cardiol
, vol.7
, pp. 1157-1161
-
-
Goldman, M.E.1
Cantor, R.2
Schwartz, M.F.3
Baker, M.4
Desnick, R.J.5
-
17
-
-
0022654934
-
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
-
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
-
20
-
-
0031088013
-
Bloc auriculo-ventriculaire complet révélateur de maladie de Fabry
-
Elhadad S, Melet V, Domniez T, Cosson S, Chollet D, Vedel J. Bloc auriculo-ventriculaire complet révélateur de maladie de Fabry. Arch Mal Coeur Vaiss 1997; 90: 393-7.
-
(1997)
Arch Mal Coeur Vaiss
, vol.90
, pp. 393-397
-
-
Elhadad, S.1
Melet, V.2
Domniez, T.3
Cosson, S.4
Chollet, D.5
Vedel, J.6
-
21
-
-
0035816007
-
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
-
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
-
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
-
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
-
25
-
-
0026623293
-
Fabry disease: An unusual cause of severe coronary disease in a young man
-
Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med 1992; 117: 221-3.
-
(1992)
Ann Intern Med
, vol.117
, pp. 221-223
-
-
Fisher, E.A.1
Desnick, R.J.2
Gordon, R.E.3
Eng, C.M.4
Griepp, R.5
Goldman, M.E.6
-
26
-
-
0034852918
-
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
-
Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP. Non-invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet 2001; 38: 629-31.
-
(2001)
J Med Genet
, vol.38
, pp. 629-631
-
-
Boutouyrie, P.1
Laurent, S.2
Laloux, B.3
Lidove, O.4
Grunfeld, J.P.5
Germain, D.P.6
-
27
-
-
25444446897
-
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
-
28
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Deegan P, Baehner AF, Barba-Romero MA, Hughes D, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006; 43: 347-52.
-
(2006)
J Med Genet
, vol.43
, pp. 347-352
-
-
Deegan, P.1
Baehner, A.F.2
Barba-Romero, M.A.3
Hughes, D.4
Kampmann, C.5
Beck, M.6
-
29
-
-
0031916344
-
Cardiac transplantation for Fabry's disease
-
Cantor WJ, Daly P, Iwanochko M, Clarke JTR, Cusimano RJ, Butany J. Cardiac transplantation for Fabry's disease. Can J Cardiol 1998; 14: 81-4.
-
(1998)
Can J Cardiol
, vol.14
, pp. 81-84
-
-
Cantor, W.J.1
Daly, P.2
Iwanochko, M.3
Clarke, J.T.R.4
Cusimano, R.J.5
Butany, J.6
-
30
-
-
16844377475
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
42
-
-
15844371614
-
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
|