-
1
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th edn. New York: McGraw-Hill;
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill; 2001: 3733-74.
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0034754467
-
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: 769-75.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0034766525
-
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: 750-60.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34: 236-42.
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
Dehout, F.4
Garcia de Lorenzo, A.5
Kampmann, C.6
-
5
-
-
84884226080
-
The heart in Fabry disease
-
Mehta A, Beck M, Sunder-Plassmann G, editors, Oxford: Oxford PharmaGenesis Ltd;
-
Linhart A. The heart in Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006: 180-201.
-
(2006)
Fabry disease: Perspectives from 5 years of FOS
, pp. 180-201
-
-
Linhart, A.1
-
6
-
-
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, Sachdev B, Rimoldi OE, Thaman R, 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
Sachdev, B.4
Rimoldi, O.E.5
Thaman, R.6
-
7
-
-
19944377541
-
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
-
Kalliokoski RJ, Kalliokoski KK, Sundell J, Engblom E, Penttinen M, Kantola I, et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 2005; 28: 563-73.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 563-573
-
-
Kalliokoski, R.J.1
Kalliokoski, K.K.2
Sundell, J.3
Engblom, E.4
Penttinen, M.5
Kantola, I.6
-
8
-
-
15844371614
-
The natural history of left ventricular systolic function in Anderson-Fabry disease
-
Shah JS, Lee P, Hughes D, Thaman R, Sachdev B, Pellerin 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
Thaman, R.4
Sachdev, B.5
Pellerin, D.6
-
9
-
-
0037461097
-
Early detection of Fabry cardiomyopathy by tissue Doppler imaging
-
Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003; 107: 1978-84.
-
(2003)
Circulation
, vol.107
, pp. 1978-1984
-
-
Pieroni, M.1
Chimenti, C.2
Ricci, R.3
Sale, P.4
Russo, M.A.5
Frustaci, A.6
-
10
-
-
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, 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: 1299-301.
-
(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
-
11
-
-
0037433180
-
Cardiac resynchronization and death from progressive heart failure: A meta-analysis of randomized controlled trials
-
Bradley DJ, Bradley EA, Baughman KL, Berger RD, Calkins H, Goodman SN, et al. Cardiac resynchronization and death from progressive heart failure: a meta-analysis of randomized controlled trials. JAMA 2003; 289: 730-40.
-
(2003)
JAMA
, vol.289
, pp. 730-740
-
-
Bradley, D.J.1
Bradley, E.A.2
Baughman, K.L.3
Berger, R.D.4
Calkins, H.5
Goodman, S.N.6
-
12
-
-
16844364826
-
The effect of cardiac resynchronization on morbidity and mortality in heart failure
-
Cleland JG, Daubert JC, Erdmann E, Freemantle N, Gras D, Kappenberger L, et al. The effect of cardiac resynchronization on morbidity and mortality in heart failure. N Engl J Med 2005; 352: 1539-49.
-
(2005)
N Engl J Med
, vol.352
, pp. 1539-1549
-
-
Cleland, J.G.1
Daubert, J.C.2
Erdmann, E.3
Freemantle, N.4
Gras, D.5
Kappenberger, L.6
-
13
-
-
24944513802
-
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease
-
Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, 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
Tome, M.4
Ward, D.5
Lee, P.6
-
14
-
-
19944429413
-
Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure
-
Bardy GH, Lee KL, Mark DB, Poole JE, Packer DL, Boineau R, et al. Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med 2005; 352: 225-37.
-
(2005)
N Engl J Med
, vol.352
, pp. 225-237
-
-
Bardy, G.H.1
Lee, K.L.2
Mark, D.B.3
Poole, J.E.4
Packer, D.L.5
Boineau, R.6
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