-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM., et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163–1167.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
-
3
-
-
38049036770
-
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
-
4
-
-
0038357464
-
Disorders of sphingolipid metabolism.
-
Barth P. Disorders of sphingolipid metabolism. Inborn Metab Dis 2000; 401–.412.
-
(2000)
Inborn Metab Dis
, pp. 401-412
-
-
Barth, P.1
-
5
-
-
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
-
6
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA., 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
-
7
-
-
15044357727
-
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
-
Hoffmann B, Garcia de LA, Mehta A., et al. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 2005; 42: 247–252.
-
(2005)
J Med Genet
, vol.42
, pp. 247-252
-
-
Hoffmann, B.1
Garcia de, L.A.2
Mehta, A.3
-
8
-
-
34248190164
-
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
-
9
-
-
71649111830
-
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
-
10
-
-
33748746594
-
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
-
11
-
-
45849123200
-
Twenty-four-month 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-four-month 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
-
12
-
-
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: 1299–1301.
-
(2003)
Circulation
, vol.108
, pp. 1299-1301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
-
13
-
-
34547615709
-
2007 Guidelines for the management of arterial hypertension: The Task Force for the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC)
-
Mancia G, De BG, Dominiczak A., et al. 2007 Guidelines for the management of arterial hypertension: The Task Force for the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). Eur Heart J 2007; 28: 1462–1536.
-
(2007)
Eur Heart J
, vol.28
, pp. 1462-1536
-
-
Mancia, G.1
De, B.G.2
Dominiczak, A.3
-
14
-
-
0034612213
-
Local pulse pressure and regression of arterial wall hypertrophy during long-term antihypertensive treatment
-
Boutouyrie P, Bussy C, Hayoz D., et al. Local pulse pressure and regression of arterial wall hypertrophy during long-term antihypertensive treatment. Circulation 2000; 101: 2601–2606.
-
(2000)
Circulation
, vol.101
, pp. 2601-2606
-
-
Boutouyrie, P.1
Bussy, C.2
Hayoz, D.3
-
15
-
-
34548329882
-
European guidelines on cardiovascular disease prevention in clinical practice: full text. Fourth Joint Task Force of the European Society of Cardiology and other societies on cardiovascular disease prevention in clinical practice (constituted by representatives of nine societies and by invited experts)
-
Graham I, Atar D, Borch-Johnsen K., et al. European guidelines on cardiovascular disease prevention in clinical practice: full text. Fourth Joint Task Force of the European Society of Cardiology and other societies on cardiovascular disease prevention in clinical practice (constituted by representatives of nine societies and by invited experts). Eur J Cardiovasc Prev Rehabil 2007; 14(Suppl 2): S1–S113.
-
(2007)
Eur J Cardiovasc Prev Rehabil
, vol.14
, pp. S1-S113
-
-
Graham, I.1
Atar, D.2
Borch-Johnsen, K.3
-
16
-
-
33750318148
-
Expert consensus document on arterial stiffness: methodological issues and clinical applications
-
Laurent S, Cockcroft J, Van Bortel L., et al. Expert consensus document on arterial stiffness: methodological issues and clinical applications. Eur Heart J 2006; 27: 2588–2605.
-
(2006)
Eur Heart J
, vol.27
, pp. 2588-2605
-
-
Laurent, S.1
Cockcroft, J.2
Van Bortel, L.3
-
17
-
-
0029087202
-
Assessment of arterial distensibility by automatic pulse wave velocity measurement. Validation and clinical application studies
-
Asmar R, Benetos A, Topouchian J., et al. Assessment of arterial distensibility by automatic pulse wave velocity measurement. Validation and clinical application studies. Hypertension 1995; 26: 485–490.
-
(1995)
Hypertension
, vol.26
, pp. 485-490
-
-
Asmar, R.1
Benetos, A.2
Topouchian, J.3
-
18
-
-
13144277531
-
Evaluation of carotid-femoral pulse wave velocity: influence of timing algorithm and heart rate
-
Millasseau SC, Stewart AD, Patel SJ, Redwood SR, Chowienczyk PJ. Evaluation of carotid-femoral pulse wave velocity: influence of timing algorithm and heart rate. Hypertension 2005; 45: 222–226.
-
(2005)
Hypertension
, vol.45
, pp. 222-226
-
-
Millasseau, S.C.1
Stewart, A.D.2
Patel, S.J.3
Redwood, S.R.4
Chowienczyk, P.J.5
-
19
-
-
33745995415
-
Brachial pressure-independent reduction in carotid stiffness after long-term angiotensin-converting enzyme inhibition in diabetic hypertensives
-
Tropeano AI, Boutouyrie P, Pannier B., et al. Brachial pressure-independent reduction in carotid stiffness after long-term angiotensin-converting enzyme inhibition in diabetic hypertensives. Hypertension 2006; 48: 80–86.
-
(2006)
Hypertension
, vol.48
, pp. 80-86
-
-
Tropeano, A.I.1
Boutouyrie, P.2
Pannier, B.3
-
20
-
-
0032053565
-
Regression of radial artery wall hypertrophy and improvement of carotid artery compliance after long-term antihypertensive treatment in elderly patients
-
Girerd X, Giannattasio C, Moulin C., et al. Regression of radial artery wall hypertrophy and improvement of carotid artery compliance after long-term antihypertensive treatment in elderly patients. J Am Coll Cardiol 1998; 31: 1064–1073.
-
(1998)
J Am Coll Cardiol
, vol.31
, pp. 1064-1073
-
-
Girerd, X.1
Giannattasio, C.2
Moulin, C.3
-
22
-
-
0026114657
-
Non-invasive estimate of the mechanical properties of peripheral arteries from ultrasonic and photoplethysmographic measurements
-
Tardy Y, Meister JJ, Perret F, Brunner HR, Arditi M. Non-invasive estimate of the mechanical properties of peripheral arteries from ultrasonic and photoplethysmographic measurements. Clin Phys Physiol Meas 1991; 12: 39–54.
-
(1991)
Clin Phys Physiol Meas
, vol.12
, pp. 39-54
-
-
Tardy, Y.1
Meister, J.J.2
Perret, F.3
Brunner, H.R.4
Arditi, M.5
-
23
-
-
0034115223
-
Intrinsic stiffness of the carotid arterial wall material in essential hypertensives
-
Bussy C, Boutouyrie P, Lacolley P, Challande P, Laurent S. Intrinsic stiffness of the carotid arterial wall material in essential hypertensives. Hypertension 2000; 35: 1049–1054.
-
(2000)
Hypertension
, vol.35
, pp. 1049-1054
-
-
Bussy, C.1
Boutouyrie, P.2
Lacolley, P.3
Challande, P.4
Laurent, S.5
-
24
-
-
0037139248
-
Gender differences and normal left ventricular anatomy in an adult population free of hypertension. A cardiovascular magnetic resonance study of the Framingham Heart Study Offspring cohort
-
Salton CJ, Chuang ML, O'Donnell CJ., et al. Gender differences and normal left ventricular anatomy in an adult population free of hypertension. A cardiovascular magnetic resonance study of the Framingham Heart Study Offspring cohort. J Am Coll Cardiol 2002; 39: 1055–1060.
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1055-1060
-
-
Salton, C.J.1
Chuang, M.L.2
O'Donnell, C.J.3
-
25
-
-
47849128189
-
Assessment of left ventricular mass and volumes by three-dimensional echocardiography in patients with or without wall motion abnormalities: comparison against cine magnetic resonance imaging
-
Pouleur AC, le Polain de Waroux JB., et al. Assessment of left ventricular mass and volumes by three-dimensional echocardiography in patients with or without wall motion abnormalities: comparison against cine magnetic resonance imaging. Heart 2008; 94: 1050–1057.
-
(2008)
Heart
, vol.94
, pp. 1050-1057
-
-
Pouleur, A.C.1
le Polain de Waroux, J.B.2
-
26
-
-
0020333131
-
Random-effects models for longitudinal data
-
Laird NM, Ware JH. Random-effects models for longitudinal data. Biometrics 1982; 38: 963–974.
-
(1982)
Biometrics
, vol.38
, pp. 963-974
-
-
Laird, N.M.1
Ware, J.H.2
-
27
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
Altarescu G, Moore DF, Pursley R., et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001; 32: 1559–1562.
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
-
28
-
-
33646680506
-
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
-
29
-
-
76349103925
-
Aortic remodelling in Fabry disease
-
Barbey F, Qanadli SD, Juli C., et al. Aortic remodelling in Fabry disease. Eur Heart J 2010; 31: 347–353.
-
(2010)
Eur Heart J
, vol.31
, pp. 347-353
-
-
Barbey, F.1
Qanadli, S.D.2
Juli, C.3
-
30
-
-
4744344117
-
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study
-
Moore DF, Ye F, Brennan ML., et al. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 2004; 20: 674–683.
-
(2004)
J Magn Reson Imaging
, vol.20
, pp. 674-683
-
-
Moore, D.F.1
Ye, F.2
Brennan, M.L.3
-
31
-
-
34249945478
-
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach
-
Moore DF, Gelderman MP, Ferreira PA., et al. Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach. Proc Natl Acad Sci U S A 2007; 104: 8065–8070.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 8065-8070
-
-
Moore, D.F.1
Gelderman, M.P.2
Ferreira, P.A.3
-
32
-
-
3943073829
-
Vascular protection: superoxide dismutase isoforms in the vessel wall
-
Faraci FM, Didion SP. Vascular protection: superoxide dismutase isoforms in the vessel wall. Arterioscler Thromb Vasc Biol 2004; 24: 1367–1373.
-
(2004)
Arterioscler Thromb Vasc Biol
, vol.24
, pp. 1367-1373
-
-
Faraci, F.M.1
Didion, S.P.2
-
34
-
-
33846447796
-
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels
-
Vedder AC, Linthorst GE, van Breemen MJ., et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 2007; 30: 68–78.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 68-78
-
-
Vedder, A.C.1
Linthorst, G.E.2
van Breemen, M.J.3
-
35
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic 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 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
Bradova, V.2
Smid, F.3
-
36
-
-
0026099642
-
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
-
37
-
-
0031973892
-
Recent advances in the biochemistry of sphingolipidoses
-
Kolter T, Sandhoff K. Recent advances in the biochemistry of sphingolipidoses. Brain Pathol 1998; 8: 79–100.
-
(1998)
Brain Pathol
, vol.8
, pp. 79-100
-
-
Kolter, T.1
Sandhoff, K.2
-
38
-
-
73949158308
-
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease
-
Brakch N, Dormond O, Bekri S., et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J 2010; 31: 67–76.
-
(2010)
Eur Heart J
, vol.31
, pp. 67-76
-
-
Brakch, N.1
Dormond, O.2
Bekri, S.3
-
39
-
-
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
-
40
-
-
0033613192
-
Association between local pulse pressure, mean blood pressure, and large-artery remodeling
-
Boutouyrie P, Bussy C, Lacolley P., et al. Association between local pulse pressure, mean blood pressure, and large-artery remodeling. Circulation 1999; 100: 1387–1393.
-
(1999)
Circulation
, vol.100
, pp. 1387-1393
-
-
Boutouyrie, P.1
Bussy, C.2
Lacolley, P.3
-
41
-
-
0035840844
-
Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options
-
MacDermot J, MacDermot KD. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur J Pharmacol 2001; 429: 121–125.
-
(2001)
Eur J Pharmacol
, vol.429
, pp. 121-125
-
-
MacDermot, J.1
MacDermot, K.D.2
-
42
-
-
33646173913
-
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
-
43
-
-
38749130497
-
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
-
44
-
-
0017132042
-
Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies
-
Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH. Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 1976; 54: 818–825.
-
(1976)
Circulation
, vol.54
, pp. 818-825
-
-
Desnick, R.J.1
Blieden, L.C.2
Sharp, H.L.3
Hofschire, P.J.4
Moller, J.H.5
-
45
-
-
0025779001
-
Arterial distensibility and left ventricular hypertrophy in patients with sustained essential hypertension
-
Girerd X, Laurent S, Pannier B, Asmar R, Safar M. Arterial distensibility and left ventricular hypertrophy in patients with sustained essential hypertension. Am Heart J 1991; 122: 1210–1214.
-
(1991)
Am Heart J
, vol.122
, pp. 1210-1214
-
-
Girerd, X.1
Laurent, S.2
Pannier, B.3
Asmar, R.4
Safar, M.5
-
46
-
-
0036266753
-
Serial MRI evaluation of cardiac structure and function in mice after reperfused myocardial infarction
-
Ross AJ, Yang Z, Berr SS., et al. Serial MRI evaluation of cardiac structure and function in mice after reperfused myocardial infarction. Magn Reson Med 2002; 47: 1158–1168.
-
(2002)
Magn Reson Med
, vol.47
, pp. 1158-1168
-
-
Ross, A.J.1
Yang, Z.2
Berr, S.S.3
|