-
1
-
-
0000889058
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
15
-
-
0035152454
-
Renal disease in Fabry patients
-
Grünfeld JP, Lidove O, Joly D, Barbey F Renal disease in Fabry patients. J Inherit Metab Dis. 2001; 24 Suppl 2: 71-74.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 2
, pp. 71-74
-
-
Grünfeld, J.P.1
Lidove, O.2
Joly, D.3
Barbey, F.4
-
16
-
-
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
-
17
-
-
34548316207
-
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
-
19
-
-
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: 1101-1108.
-
(2000)
Am Heart J
, vol.139
, pp. 1101-1108
-
-
Linhart, A.1
Palecek, T.2
Bultas, J.3
-
20
-
-
20844452038
-
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
-
21
-
-
24644440096
-
Morbus Fabry of the heart
-
Why should cardiologists care
-
Strotmann J, Weidemann F, Breunig F, Knoll A, Wanner C, Ertl G. Morbus Fabry of the heart. Why should cardiologists care? Z Kardiol. 2005; 94: 557-563.
-
(2005)
Z Kardiol
, vol.94
, pp. 557-563
-
-
Strotmann, J.1
Weidemann, F.2
Breunig, F.3
Knoll, A.4
Wanner, C.5
Ertl, G.6
-
22
-
-
55749096248
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
36
-
-
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: 1978-1984.
-
(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
-
37
-
-
58849151159
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
44
-
-
0027491109
-
Nature and frequency of mutations in the alphagalactosidase A gene that cause Fabry disease
-
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the alphagalactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993; 53: 1186-1197.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1186-1197
-
-
Eng, C.M.1
Resnick-Silverman, L.A.2
Niehaus, D.J.3
Astrin, K.H.4
Desnick, R.J.5
-
45
-
-
0027201108
-
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
-
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
-
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
-
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
-
-
33645463875
-
A successful approach for the detection of Fabry patients in Argentina
-
Rozenfeld PA, Tarabuso A, Ebner R, Ramallo G, Fossati CA. A successful approach for the detection of Fabry patients in Argentina. Clin Genet. 2006; 69: 344-348.
-
(2006)
Clin Genet
, vol.69
, pp. 344-348
-
-
Rozenfeld, P.A.1
Tarabuso, A.2
Ebner, R.3
Ramallo, G.4
Fossati, C.A.5
-
50
-
-
79961145521
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
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