-
2
-
-
34247327312
-
The heart in Anderson-Fabry disease and other lysosomal storage disorders
-
DOI 10.1136/hrt.2005.063818
-
Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007;93:528-35. (Pubitemid 46631530)
-
(2007)
Heart
, vol.93
, Issue.4
, pp. 528-535
-
-
Linhart, A.1
Elliott, P.M.2
-
3
-
-
68049129847
-
Natural course of Fabry disease: Changing pattern of causes of death in FOS - Fabry Outcome Survey
-
FOS Investigators
-
Mehta A, Clarke JT, Giugliani R, et al. FOS Investigators. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet 2009;46:548-52.
-
(2009)
J Med Genet
, vol.46
, pp. 548-552
-
-
Mehta, A.1
Clarke, J.T.2
Giugliani, R.3
-
4
-
-
67649583702
-
Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective long-term cardiac magnetic resonance imaging study
-
Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 2009;95:1103-7.
-
(2009)
Heart
, vol.95
, pp. 1103-1107
-
-
Imbriaco, M.1
Pisani, A.2
Spinelli, L.3
-
5
-
-
38749130497
-
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
-
DOI 10.1136/hrt.2006.104026
-
Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebocontrolled clinical trial of agalsidase alfa. Heart 2008;94:153-8. (Pubitemid 351211719)
-
(2008)
Heart
, vol.94
, Issue.2
, pp. 153-158
-
-
Hughes, D.A.1
Elliott, P.M.2
Shah, J.3
Zuckerman, J.4
Coghlan, G.5
Brookes, J.6
Mehta, A.B.7
-
6
-
-
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
-
7
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
DOI 10.1161/01.CIR.0000012626.81324.38
-
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. (Pubitemid 34263268)
-
(2002)
Circulation
, vol.105
, Issue.12
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
Tei, C.4
Lee, P.5
McKenna, W.J.6
Elliott, P.M.7
-
8
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
DOI 10.1161/01.CIR.0000139847.74101.03
-
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. (Pubitemid 39319001)
-
(2004)
Circulation
, vol.110
, Issue.9
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
Antuzzi, D.4
Russo, A.5
Russo, M.A.6
Maseri, A.7
Frustaci, A.8
-
9
-
-
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
-
10
-
-
33745444609
-
Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study
-
DOI 10.1161/CIRCULATIONAHA.105.593558, PII 0000301720060613000007
-
Morita H, Larson MG, Barr SC, et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006;113:2697-705. (Pubitemid 43947987)
-
(2006)
Circulation
, vol.113
, Issue.23
, pp. 2697-2705
-
-
Morita, H.1
Larson, M.G.2
Barr, S.C.3
Vasan, R.S.4
O'Donnell, C.J.5
Hirschhorn, J.N.6
Levy, D.7
Corey, D.8
Seidman, C.E.9
Seidman, J.G.10
Benjamin, E.J.11
-
11
-
-
37449005523
-
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
-
DOI 10.1016/j.jacc.2007.06.062, PII S0735109707031191
-
Monserrat L, Gimeno-Blanes JR, Mar? ́n F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007;50:2399-403. (Pubitemid 50011583)
-
(2007)
Journal of the American College of Cardiology
, vol.50
, Issue.25
, pp. 2399-2403
-
-
Monserrat, L.1
Gimeno-Blanes, J.R.2
Marin, F.3
Hermida-Prieto, M.4
Garcia-Honrubia, A.5
Perez, I.6
Fernandez, X.7
De Nicolas, R.8
De La, M.G.9
Paya, E.10
Yague, J.11
Egido, J.12
-
12
-
-
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;89:929-30. (Pubitemid 36920824)
-
(2003)
Heart
, vol.89
, Issue.8
, pp. 929-930
-
-
Ommen, S.R.1
Nishimura, R.A.2
Edwards, W.D.3
-
13
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
DOI 10.1016/S0140-6736(05)67635-0, PII S0140673605676350
-
Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366:1794-6. (Pubitemid 41642643)
-
(2005)
Lancet
, vol.366
, Issue.9499
, pp. 1794-1796
-
-
Rolfs, A.1
Bottcher, T.2
Zschiesche, M.3
Morris, P.4
Winchester, B.5
Bauer, P.6
Walter, U.7
Mix, E.8
Lohr, M.9
Harzer, K.10
Strauss, U.11
Pahnke, J.12
Grossmann, A.13
Benecke, R.14
-
14
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency) - Investigation of symptomatic and presymptomatic patients
-
Morgan SH, Rudge P, Smith SJ, et al. The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency) - investigation of symptomatic and presymptomatic patients. Q J Med 1990;75:491-504.
-
(1990)
Q J Med
, vol.75
, pp. 491-504
-
-
Morgan, S.H.1
Rudge, P.2
Smith, S.J.3
-
15
-
-
0028102484
-
Fabry disease: Twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene
-
Eng CM, Niehaus DJ, Enriquez AL, et al. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet 1994;3:1795-9. (Pubitemid 24310473)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.10
, pp. 1795-1799
-
-
Eng, C.M.1
Niehaus, D.J.2
Enriquez, A.L.3
Burgert, T.S.4
Ludman, M.D.5
Desnick, R.J.6
-
16
-
-
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;2:1051-3. (Pubitemid 23216645)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.7
, pp. 1051-1053
-
-
Davies, J.P.1
Winchester, B.G.2
Malcolm, S.3
-
17
-
-
0030926514
-
Fabry disease: Thirty-five mutations in the alpha-galactosidase a gene in patients with classic and variant phenotypes
-
Eng CM, Ashley GA, Burgert TS, et al. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997;3:174-82. (Pubitemid 27215284)
-
(1997)
Molecular Medicine
, vol.3
, Issue.3
, pp. 174-182
-
-
Eng, C.M.1
Ashley, G.A.2
Burgert, T.S.3
Enriquez, A.L.4
D'Souza, M.5
Desnick, R.J.6
-
18
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A, Ricci R, Widmer U, 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
-
19
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
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. (Pubitemid 43927374)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
Ponzone, A.7
Desnick, R.J.8
-
20
-
-
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;30:1397-405.
-
(2009)
Hum Mutat
, vol.30
, pp. 1397-1405
-
-
Hwu, W.L.1
Chien, Y.H.2
Lee, N.C.3
-
21
-
-
77951546978
-
Screening for Fabry disease in highrisk populations: A systematic review
-
Linthorst GE, Bouwman MG, Wijburg FA, et al. Screening for Fabry disease in highrisk populations: a systematic review. J Med Genet 2010;47:217-22.
-
(2010)
J Med Genet
, vol.47
, pp. 217-222
-
-
Linthorst, G.E.1
Bouwman, M.G.2
Wijburg, F.A.3
-
22
-
-
78651237588
-
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: The FOCUS study
-
FOCUS study investigators
-
Hagège AA, Caudron E, Damy T, et al. FOCUS study investigators. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study. Heart 2011;97:131-6.
-
(2011)
Heart
, vol.97
, pp. 131-136
-
-
Hagège, A.A.1
Caudron, E.2
Damy, T.3
-
23
-
-
71649111830
-
Fabry Outcome Survey investigators. 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. Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96.
-
(2009)
Lancet
, vol.374
, pp. 1986-1996
-
-
Mehta, A.1
Beck, M.2
Elliott, P.3
-
24
-
-
34548316207
-
Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey
-
DOI 10.1093/eurheartj/ehm153
-
Linhart A, Kampmann C, Zamorano JL, et al. European FOS Investigators. Cardiac manifestations of AndersoneFabry disease: results from the international Fabry outcome survey. Eur Heart J 2007;28:1228-35. (Pubitemid 47343855)
-
(2007)
European Heart Journal
, vol.28
, Issue.10
, pp. 1228-1235
-
-
Linhart, A.1
Kampmann, C.2
Zamorano, J.L.3
Sunder-Plassmann, G.4
Beck, M.5
Mehta, A.6
Elliott, P.M.7
|