-
1
-
-
0000889058
-
-galactosidase a deficiency: Fabry disease
-
Scriver C. R. Beaudet A. L. Sly W. S. New York, NY, USA McGraw-Hill
-
Desnick R. J., Yannis I. A., Eng C. M., Scriver C. R., Beaudet A. L., Sly W. S., -galactosidase a deficiency: Fabry disease The Metabolic and Molecular Basis of Inherited Disease 2001 New York, NY, USA McGraw-Hill 3733 3774
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Yannis, I.A.2
Eng, C.M.3
-
2
-
-
33846447796
-
3 levels
-
DOI 10.1007/s10545-006-0484-8
-
Vedder A. C., Linthorst G. E., van Breemen M. J., Groener J. E. M., Bemelman F. J., Strijland A., Mannens M. M. A. M., Aerts J. M. F. G., Hollak C. E. M., The Dutch Fabry cohort: diversity of clinical manifestations and Gb levels Journal of Inherited Metabolic Disease 2007 30 1 68 78 (Pubitemid 46140228)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.1
, pp. 68-78
-
-
Vedder, A.C.1
Linthorst, G.E.2
Van Breemen, M.J.3
Groener, J.E.M.4
Bemelman, F.J.5
Strijland, A.6
Mannens, M.M.A.M.7
Aerts, J.M.F.G.8
Hollak, C.E.M.9
-
3
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
DOI 10.1023/A:1012447102358
-
MacDermot K. D., Holmes A., Miners A. H., Natural history of Fabry disease in affected males and obligate carrier females Journal of Inherited Metabolic Disease 2001 24 2, supplement 13 14 (Pubitemid 33061626)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.SUPPL. 2
, pp. 13-14
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
67651123138
-
Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
Schiffmann R., Warnock D. G., Banikazemi M., Bultas J., Linthorst G. E., Packman S., Sorensen S. A., Wilcox W. R., Desnick R. J., Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrology Dialysis Transplantation 2009 24 7 2102 2111
-
(2009)
Nephrology Dialysis Transplantation
, vol.24
, Issue.7
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
Bultas, J.4
Linthorst, G.E.5
Packman, S.6
Sorensen, S.A.7
Wilcox, W.R.8
Desnick, R.J.9
-
5
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [1]
-
MacDermot K. D., Holmes A., Miners A. H., Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females Journal of Medical Genetics 2001 38 11 769 775 (Pubitemid 33032933)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
6
-
-
53749104902
-
Fabry's disease
-
Zarate Y. A., Hopkin R. J., Fabry's disease The Lancet 2008 372 9647 1427 1435
-
(2008)
The Lancet
, vol.372
, Issue.9647
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
7
-
-
62449143800
-
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the fabry registry
-
Sims K., Politei J., Banikazemi M., Lee P., Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the fabry registry Stroke 2009 40 3 788 794
-
(2009)
Stroke
, vol.40
, Issue.3
, pp. 788-794
-
-
Sims, K.1
Politei, J.2
Banikazemi, M.3
Lee, P.4
-
8
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
DOI 10.1111/j.1365-2362.2004.01309.x
-
Mehta A., Ricci R., Widmer U., Dehout F., Garcia De Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., Beck M., Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey European Journal of Clinical Investigation 2004 34 3 236 242 (Pubitemid 38406640)
-
(2004)
European Journal of Clinical Investigation
, vol.34
, Issue.3
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
Dehout, F.4
Garcia De Lorenzo, A.5
Kampmann, C.6
Linhart, A.7
Sunder-Plassmann, G.8
Ries, M.9
Beck, M.10
-
9
-
-
38049036770
-
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry registry
-
Wilcox W. R., Oliveira J. P., Hopkin R. J., Ortiz A., Banikazemi M., Feldt-Rasmussen U., Sims K., Waldek S., Pastores G. M., Lee P., Eng C. M., Marodi L., Stanford K. E., Breunig F., Wanner C., Warnock D. G., Lemay R. M., Germain D. P., Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry Molecular Genetics and Metabolism 2008 93 2 112 128
-
(2008)
Molecular Genetics and Metabolism
, vol.93
, Issue.2
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
Ortiz, A.4
Banikazemi, M.5
Feldt-Rasmussen, U.6
Sims, K.7
Waldek, S.8
Pastores, G.M.9
Lee, P.10
Eng, C.M.11
Marodi, L.12
Stanford, K.E.13
Breunig, F.14
Wanner, C.15
Warnock, D.G.16
Lemay, R.M.17
Germain, D.P.18
-
10
-
-
33747012109
-
CNS manifestations of Fabry's disease
-
DOI 10.1016/S1474-4422(06)70548-8, PII S1474442206705488
-
Fellgiebel A., Mller M. J., Ginsberg L., CNS manifestations of Fabry's disease Lancet Neurology 2006 5 9 791 795 (Pubitemid 44205515)
-
(2006)
Lancet Neurology
, vol.5
, Issue.9
, pp. 791-795
-
-
Fellgiebel, A.1
Muller, M.J.2
Ginsberg, L.3
-
11
-
-
34548173233
-
Voxel based analyses of diffusion tensor imaging in Fabry disease
-
DOI 10.1136/jnnp.2006.112987
-
Albrecht J., Dellani P. R., Mller M. J., Schermuly I., Beck M., Stoeter P., Gerhard A., Fellgiebel A., Voxel based analyses of diffusion tensor imaging in Fabry disease Journal of Neurology, Neurosurgery and Psychiatry 2007 78 9 964 969 (Pubitemid 47310833)
-
(2007)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.78
, Issue.9
, pp. 964-969
-
-
Albrecht, J.1
Dellani, P.R.2
Muller, M.J.3
Schermuly, I.4
Beck, M.5
Stoeter, P.6
Gerhard, A.7
Fellgiebel, A.8
-
12
-
-
33947687663
-
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
-
DOI 10.1007/s10545-007-0521-2
-
Eng C. M., Fletcher J., Wilcox W. R., Waldek S., Scott C. R., Sillence D. O., Breunig F., Charrow J., Germain D. P., Nicholls K., Banikazemi M., Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry Journal of Inherited Metabolic Disease 2007 30 2 184 192 (Pubitemid 46487999)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.2
, pp. 184-192
-
-
Eng, C.M.1
Fletcher, J.2
Wilcox, W.R.3
Waldek, S.4
Scott, C.R.5
Sillence, D.O.6
Breunig, F.7
Charrow, J.8
Germain, D.P.9
Nicholls, K.10
Banikazemi, M.11
-
13
-
-
73749088671
-
Vasculopathy in patients with Fabry disease: Current controversies and research directions
-
Rombach S. M., Twickler T. B., Aerts J. M. F. G., Linthorst G. E., Wijburg F. A., Hollak C. E. M., Vasculopathy in patients with Fabry disease: current controversies and research directions Molecular Genetics and Metabolism 2010 99 2 99 108
-
(2010)
Molecular Genetics and Metabolism
, vol.99
, Issue.2
, pp. 99-108
-
-
Rombach, S.M.1
Twickler, T.B.2
Aerts, J.M.F.G.3
Linthorst, G.E.4
Wijburg, F.A.5
Hollak, C.E.M.6
-
14
-
-
0036436320
-
Globotriaosylceramide accumulation in the fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
DOI 10.1046/j.1523-1755.2002.00675.x
-
Thurberg B. L., Rennke H., Colvin R. B., Dikman S., Gordon R. E., Collins A. B., Desnick R. J., O'Callaghan M., Globotriaosylceramide accumulation in the fabry kidney is cleared from multiple cell types after enzyme replacement therapy Kidney International 2002 62 6 1933 1946 (Pubitemid 35366149)
-
(2002)
Kidney International
, vol.62
, Issue.6
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
Collins, A.B.6
Desnick, R.J.7
O'Callaghan, M.8
-
15
-
-
2342544939
-
Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies
-
DOI 10.1111/j.0022-202X.2004.22425.x
-
Thurberg B. L., Byers H. R., Granter S. R., Phelps R. G., Gordon R. E., O'Callaghan M., Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies Journal of Investigative Dermatology 2004 122 4 900 908 (Pubitemid 38580992)
-
(2004)
Journal of Investigative Dermatology
, vol.122
, Issue.4
, pp. 900-908
-
-
Thurberg, B.L.1
Byers, H.R.2
Granter, S.R.3
Phelps, R.G.4
Gordon, R.E.5
O'Callaghan, M.6
-
16
-
-
66349092222
-
Cardiac microvascular pathology in fabry disease evaluation of endomyocardial biopsies before and after enzyme replacement therapy
-
Thurberg B. L., Fallen J. T., Mitchell R., Aretz T., Gordon R. E., O'Callaghan M. W., Cardiac microvascular pathology in fabry disease evaluation of endomyocardial biopsies before and after enzyme replacement therapy Circulation 2009 119 19 2561 2567
-
(2009)
Circulation
, vol.119
, Issue.19
, pp. 2561-2567
-
-
Thurberg, B.L.1
Fallen, J.T.2
Mitchell, R.3
Aretz, T.4
Gordon, R.E.5
O'Callaghan, M.W.6
-
17
-
-
43249124728
-
Update on Fabry disease: Kidney involvement, renal progression and enzyme replacement therapy
-
Breunig F., Wanner C., Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy Journal of Nephrology 2008 21 1 32 37 (Pubitemid 351780571)
-
(2008)
Journal of Nephrology
, vol.21
, Issue.1
, pp. 32-37
-
-
Breunig, F.1
Wanner, C.2
-
18
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox W. R., Banikazemi M., Guffon N., Waldek S., Lee P., Linthorst G. E., Desnick R. J., Germain D. P., Long-term safety and efficacy of enzyme replacement therapy for Fabry disease American Journal of Human Genetics 2004 75 1 65 74
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.1
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
Desnick, R.J.7
Germain, D.P.8
-
19
-
-
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., Herrmann S., Beer M., Strk S., Voelker W., Ertl G., Wanner C., Strotmann J., Long-term effects of enzyme replacement therapy on fabry cardiomyopathy. Evidence for a better outcome with early treatment Circulation 2009 119 4 524 529
-
(2009)
Circulation
, vol.119
, Issue.4
, pp. 524-529
-
-
Weidemann, F.1
Niemann, M.2
Breunig, F.3
Herrmann, S.4
Beer, M.5
Strk, S.6
Voelker, W.7
Ertl, G.8
Wanner, C.9
Strotmann, J.10
-
20
-
-
34249800685
-
The cerebral vasculopathy of Fabry disease
-
DOI 10.1016/j.jns.2007.01.053, PII S0022510X07000561, Vascular Dementia Proceedings of the Fourth International Congress on Vascular Dementia
-
Moore D. F., Kaneski C. R., Askari H., Schiffmann R., The cerebral vasculopathy of Fabry disease Journal of the Neurological Sciences 2007 257 1-2 258 263 (Pubitemid 46856501)
-
(2007)
Journal of the Neurological Sciences
, vol.257
, Issue.1-2
, pp. 258-263
-
-
Moore, D.F.1
Kaneski, C.R.2
Askari, H.3
Schiffmann, R.4
-
21
-
-
2542436148
-
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease
-
DOI 10.1007/s00415-004-0364-9
-
Hilz M. J., Kolodny E. H., Brys M., Stemper B., Haendl T., Marthol H., Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease Journal of Neurology 2004 251 5 564 570 (Pubitemid 38680299)
-
(2004)
Journal of Neurology
, vol.251
, Issue.5
, pp. 564-570
-
-
Hilz, M.J.1
Kolodny, E.H.2
Brys, M.3
Stemper, B.4
Haendl, T.5
Marthol, H.6
-
22
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DOI 10.1002/1531-8249(200002)47:2<229::AID-ANA13>3.0.CO;2-T
-
DeGraba T., Azhar S., Dignat-George F., Brown E., Boutire B., Altarescu G., McCarron R., Schiffmann R., Profile of endothelial and leukocyte activation in Fabry patients Annals of Neurology 2000 47 2 229 233 (Pubitemid 30078570)
-
(2000)
Annals of Neurology
, vol.47
, Issue.2
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
McCarron, R.7
Schiffmann, R.8
-
23
-
-
0034935252
-
Selective arterial distribution of cerebral hyperperfusion in fabry disease
-
Moore D. F., Herscovitch P., Schiffmann R., Selective arterial distribution of cerebral hyperperfusion in fabry disease Journal of Neuroimaging 2001 11 3 303 307 (Pubitemid 32625278)
-
(2001)
Journal of Neuroimaging
, vol.11
, Issue.3
, pp. 303-307
-
-
Moore, D.F.1
Herscovitch, P.2
Schiffmann, R.3
-
24
-
-
4744344117
-
Ascorbate decreases fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study
-
DOI 10.1002/jmri.20162
-
Moore D. F., Ye F., Brennan M. L., Gupta S., Barshop B. A., Steiner R. D., Rhead W. J., Brady R. O., Hazen S. L., Schiffmann R., Ascorbate decreases fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study Journal of Magnetic Resonance Imaging 2004 20 4 674 683 (Pubitemid 39313744)
-
(2004)
Journal of Magnetic Resonance Imaging
, vol.20
, Issue.4
, pp. 674-683
-
-
Moore, D.F.1
Ye, F.2
Brennan, M.-L.3
Gupta, S.4
Barshop, B.A.5
Steiner, R.D.6
Rhead, W.J.7
Brady, R.O.8
Hazen, S.L.9
Schiffmann, R.10
-
25
-
-
77951665982
-
Cardiac challenges in patients with Fabry disease
-
Weidemann F., Linhart A., Monserrat L., Strotmann J., Cardiac challenges in patients with Fabry disease International Journal of Cardiology 2010 141 1 3 10
-
(2010)
International Journal of Cardiology
, vol.141
, Issue.1
, pp. 3-10
-
-
Weidemann, F.1
Linhart, A.2
Monserrat, L.3
Strotmann, J.4
-
26
-
-
0031800927
-
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease
-
Crutchfield K. E., Patronas N. J., Dambrosia J. M., Frei K. P., Banerjee T. K., Barton N. W., Schiffmann R., Quantitative analysis of cerebral vasculopathy in patients with Fabry disease Neurology 1998 50 6 1746 1749 (Pubitemid 28283245)
-
(1998)
Neurology
, vol.50
, Issue.6
, pp. 1746-1749
-
-
Crutchfield, K.E.1
Patronas, N.J.2
Dambrosia, J.M.3
Frei, K.P.4
Banerjee, T.K.5
Barton, N.W.6
Schiffmann, R.7
-
27
-
-
0026481522
-
Cerebrovascular manifestations in a female carrier of Fabry's disease
-
Grewal R. P., McLatchey S. K., Cerebrovascular manifestations in a female carrier of Fabry's disease Acta Neurologica Belgica 1992 92 1 36 40
-
(1992)
Acta Neurologica Belgica
, vol.92
, Issue.1
, pp. 36-40
-
-
Grewal, R.P.1
McLatchey, S.K.2
-
28
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
DOI 10.1002/ana.410400105
-
Mitsias P., Levine S. R., Cerebrovascular complications of Fabry's disease Annals of Neurology 1996 40 1 8 17 (Pubitemid 26250137)
-
(1996)
Annals of Neurology
, vol.40
, Issue.1
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
29
-
-
0347123263
-
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions
-
DOI 10.1016/j.brainresbull.2003.09.021
-
Moore D. F., Altarescu G., Barker W. C., Patronas N. J., Herscovitch P., Schiffmann R., White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions Brain Research Bulletin 2003 62 3 231 240 (Pubitemid 38091711)
-
(2003)
Brain Research Bulletin
, vol.62
, Issue.3
, pp. 231-240
-
-
Moore, D.F.1
Altarescu, G.2
Barker, W.C.3
Patronas, N.J.4
Herscovitch, P.5
Schiffmann, R.6
-
30
-
-
0033549065
-
Diffuse central neuronal involvement in Fabry disease: A proton MRS imaging study
-
Tedeschi G., Bonavita S., Banerjee T. K., Virta A., Schiffmann R., Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study Neurology 1999 52 8 1663 1667 (Pubitemid 29220645)
-
(1999)
Neurology
, vol.52
, Issue.8
, pp. 1663-1667
-
-
Tedeschi, G.1
Bonavita, S.2
Banerjee, T.K.3
Virta, A.4
Schiffmann, R.5
-
31
-
-
33745655230
-
Diffuse structural and metabolic brain changes in Fabry disease
-
DOI 10.1007/s00415-005-0020-z
-
Marino S., Borsini W., Buchner S., Mortilla M., Stromillo M. L., Battaglini M., Giorgio A., Bramanti P., Federico A., De Stefano N., Diffuse structural and metabolic brain changes in Fabry disease Journal of Neurology 2006 253 4 434 440 (Pubitemid 43965607)
-
(2006)
Journal of Neurology
, vol.253
, Issue.4
, pp. 434-440
-
-
Marino, S.1
Borsini, W.2
Buchner, S.3
Mortilla, M.4
Stromillo, M.L.5
Battaglini, M.6
Giorgio, A.7
Bramanti, P.8
Federico, A.9
De Stefano, N.10
-
32
-
-
0037938617
-
Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease
-
Moore D. F., Ye F., Schiffmann R., Butman J. A., Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease American Journal of Neuroradiology 2003 24 6 1096 1101 (Pubitemid 36734228)
-
(2003)
American Journal of Neuroradiology
, vol.24
, Issue.6
, pp. 1096-1101
-
-
Moore, D.F.1
Ye, F.2
Schiffmann, R.3
Butman, J.A.4
-
33
-
-
44449134068
-
The pulvinar sign: Frequency and clinical correlations in Fabry disease
-
Burlina A. P., Manara R., Caillaud C., Laissy J. P., Severino M., Klein I., Burlina A., Lidove O., The pulvinar sign: frequency and clinical correlations in Fabry disease Journal of Neurology 2008 255 5 738 744
-
(2008)
Journal of Neurology
, vol.255
, Issue.5
, pp. 738-744
-
-
Burlina, A.P.1
Manara, R.2
Caillaud, C.3
Laissy, J.P.4
Severino, M.5
Klein, I.6
Burlina, A.7
Lidove, O.8
-
34
-
-
63849192341
-
Diagnostic utility of different MRI and MR angiography measures in Fabry disease
-
Fellgiebel A., Keller I., Marin D., Mller M. J., Schermuly I., Yakushev I., Albrecht J., Bellhuser H., Kinateder M., Beck M., Stoeter P., Diagnostic utility of different MRI and MR angiography measures in Fabry disease Neurology 2009 72 1 63 68
-
(2009)
Neurology
, vol.72
, Issue.1
, pp. 63-68
-
-
Fellgiebel, A.1
Keller, I.2
Marin, D.3
Mller, M.J.4
Schermuly, I.5
Yakushev, I.6
Albrecht, J.7
Bellhuser, H.8
Kinateder, M.9
Beck, M.10
Stoeter, P.11
-
35
-
-
25444446897
-
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women
-
DOI 10.1097/01.md.0000178976.62537.6b
-
Gupta S., Ries M., Kotsopoulos S., Schiffmann R., The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women Medicine 2005 84 5 261 268 (Pubitemid 41368479)
-
(2005)
Medicine
, vol.84
, Issue.5
, pp. 261-268
-
-
Gupta, S.1
Ries, M.2
Kotsopoulos, S.3
Schiffmann, R.4
-
36
-
-
0028052980
-
Stroke in Fabry's disease
-
Grewal R. P., Stroke in Fabry's disease Journal of Neurology 1994 241 3 153 156 (Pubitemid 24026826)
-
(1994)
Journal of Neurology
, vol.241
, Issue.3
, pp. 153-156
-
-
Grewal, R.P.1
-
37
-
-
16844381552
-
Natural history of the cerebrovascular complications of Fabry disease
-
Mehta A., Ginsberg L., Natural history of the cerebrovascular complications of Fabry disease Acta Paediatrica 2005 94 447 24 27
-
(2005)
Acta Paediatrica
, vol.94
, Issue.447
, pp. 24-27
-
-
Mehta, A.1
Ginsberg, L.2
-
38
-
-
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., Bttcher T., Zschiesche M., Morris P., Winchester B., Bauer P., Walter U., Mix E., Lhr M., Harzer K., Strauss U., Pahnke J., Grossmann A., Benecke R., Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study Lancet 2005 366 9499 1794 1796 (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
-
39
-
-
27844441232
-
Fabry's disease - An important risk factor for stroke
-
DOI 10.1016/S0140-6736(05)67636-2, PII S0140673605676362
-
Schiffmann R., Ries M., Fabry's diseasean important risk factor for stroke Lancet 2005 366 9499 1754 1756 (Pubitemid 41642633)
-
(2005)
Lancet
, vol.366
, Issue.9499
, pp. 1754-1756
-
-
Schiffmann, R.1
Ries, M.2
-
40
-
-
34249096872
-
Middelheim Fabry Study (MiFaS): A retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke
-
DOI 10.1016/j.clineuro.2007.03.008, PII S0303846707000789
-
Brouns R., Sheorajpanday R., Braxel E., Eyskens F., Baker R., Hughes D., Mehta A., Timmerman T., Vincent M. F., De Deyn P. P., Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke Clinical Neurology and Neurosurgery 2007 109 6 479 484 (Pubitemid 46783192)
-
(2007)
Clinical Neurology and Neurosurgery
, vol.109
, Issue.6
, pp. 479-484
-
-
Brouns, R.1
Sheorajpanday, R.2
Braxel, E.3
Eyskens, F.4
Baker, R.5
Hughes, D.6
Mehta, A.7
Timmerman, T.8
Vincent, M.-F.9
De Deyn, P.P.10
-
41
-
-
77649086331
-
Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE studyscreening genetic conditions in Portuguese young STROKE patients
-
Baptista M. V., Ferreira S., Pinho-E-Melo T., Carvalho M., Cruz V. T., Carmona C., Silva F. A., Tuna A., Rodrigues M., Ferreira C., Pinto A. A.N., Leito A., Gabriel J. P., Calado S., Oliveira J. P., Ferro J. M., Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE studyscreening genetic conditions in Portuguese young STROKE patients Stroke 2010 41 3 431 436
-
(2010)
Stroke
, vol.41
, Issue.3
, pp. 431-436
-
-
Baptista, M.V.1
Ferreira, S.2
Pinho-E-Melo, T.3
Carvalho, M.4
Cruz, V.T.5
Carmona, C.6
Silva, F.A.7
Tuna, A.8
Rodrigues, M.9
Ferreira, C.10
Pinto, A.A.N.11
Leito, A.12
Gabriel, J.P.13
Calado, S.14
Oliveira, J.P.15
Ferro, J.M.16
-
42
-
-
74049117508
-
Frequency of unrecognized fabry disease among young european-american and african-american men with first ischemic stroke
-
Wozniak M. A., Kittner S. J., Tuhrim S., Cole J. W., Stern B., Dobbins M., Grace M. E., Nazarenko I., Dobrovolny R., McDade E., Desnick R. J., Frequency of unrecognized fabry disease among young european-american and african-american men with first ischemic stroke Stroke 2010 41 1 78 81
-
(2010)
Stroke
, vol.41
, Issue.1
, pp. 78-81
-
-
Wozniak, M.A.1
Kittner, S.J.2
Tuhrim, S.3
Cole, J.W.4
Stern, B.5
Dobbins, M.6
Grace, M.E.7
Nazarenko, I.8
Dobrovolny, R.9
McDade, E.10
Desnick, R.J.11
-
43
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
DOI 10.1097/GIM.0b013e31802d8321, PII 0012581720070100000006
-
Wang R. Y., Lelis A., Mirocha J., Wilcox W. R., Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life Genetics in Medicine 2007 9 1 34 45 (Pubitemid 46115959)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.1
, pp. 34-45
-
-
Wang, R.Y.1
Lelis, A.2
Mirocha, J.3
Wilcox, W.R.4
-
44
-
-
0036981643
-
Clinical features of Fabry's disease in Australian patients
-
DOI 10.1046/j.1445-5994.2002.00291.x
-
Galanos J., Nicholls K., Grigg L., Kiers L., Crawford A., Becker G., Clinical features of Fabry's disease in Australian patients Internal Medicine Journal 2002 32 12 575 584 (Pubitemid 36871740)
-
(2002)
Internal Medicine Journal
, vol.32
, Issue.12
, pp. 575-584
-
-
Galanos, J.1
Nicholls, K.2
Grigg, L.3
Kiers, L.4
Crawford, A.5
Becker, G.6
-
45
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. -Galactosidase activities in plasma, serum, urine, and leukocytes
-
Desnick R. J., Allen K. Y., Desnick S. J., Raman M. K., Bernlohr R. W., Krivit W., Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. -Galactosidase activities in plasma, serum, urine, and leukocytes The Journal of Laboratory and Clinical Medicine 1973 81 2 157 171
-
(1973)
The Journal of Laboratory and Clinical Medicine
, vol.81
, Issue.2
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
Raman, M.K.4
Bernlohr, R.W.5
Krivit, W.6
-
46
-
-
43549119020
-
Enzyme activity for determination of presence of Fabry disease in women results in 40 false-negative results
-
DOI 10.1016/j.jacc.2008.02.050, PII S073510970800942X
-
Linthorst G. E., Poorthuis B. J. H. M., Enzyme activity for determination of presence of Fabry disease in women results in 40 false-negative results Journal of the American College of Cardiology 2008 51 21 2082 (Pubitemid 351680525)
-
(2008)
Journal of the American College of Cardiology
, vol.51
, Issue.21
, pp. 2082
-
-
Linthorst, G.E.1
Poorthuis, B.J.H.M.2
Hollak, C.E.M.3
-
48
-
-
73349136303
-
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919GA(IVS4+919GA)
-
Hwu W. L., Chien Y. H., Lee N. C., Chiang S. C., Dobrovolny R., Huang AI. C., Yeh H. Y., Chao M. C., Lin S. J., Kitagawa T., Desnick R. J., Hsu LI. W., Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919GA(IVS4+919GA) Human mutation 2009 30 10 1397 1405
-
(2009)
Human Mutation
, vol.30
, Issue.10
, pp. 1397-1405
-
-
Hwu, W.L.1
Chien, Y.H.2
Lee, N.C.3
Chiang, S.C.4
Dobrovolny, R.5
Huang, A.I.C.6
Yeh, H.Y.7
Chao, M.C.8
Lin, S.J.9
Kitagawa, T.10
Desnick, R.J.11
Hsu, L.I.W.12
-
49
-
-
77949893047
-
High incidence of the cardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population
-
Lin H. Y., Chong K. W., Hsu J. H., Yu H. C., Shih C. C., Huang C. H., Lin S. J., Chen C. H., Chiang C. C., Ho H. J., Lee PI. C., Kao C. H., Cheng K. H., Hsueh C., Niu D. M., High incidence of the cardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population Circulation 2009 2 5 450 456
-
(2009)
Circulation
, vol.2
, Issue.5
, pp. 450-456
-
-
Lin, H.Y.1
Chong, K.W.2
Hsu, J.H.3
Yu, H.C.4
Shih, C.C.5
Huang, C.H.6
Lin, S.J.7
Chen, C.H.8
Chiang, C.C.9
Ho, H.J.10
Lee, P.I.C.11
Kao, C.H.12
Cheng, K.H.13
Hsueh, C.14
Niu, D.M.15
-
50
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G., Sakuraba H., Ponzone A., Desnick R. J., High incidence of later-onset Fabry disease revealed by newborn screening American Journal of Human Genetics 2006 79 1 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
-
51
-
-
77951546978
-
Screening for Fabry disease in high-risk populations: A systematic review
-
Linthorst G. E., Bouwman M. G., Wijburg F. A., Aerts J. M. F. G., Poorthuis B. J. H. M., Hollak C. E. M., Screening for Fabry disease in high-risk populations: a systematic review Journal of Medical Genetics 2010 47 4 217 222
-
(2010)
Journal of Medical Genetics
, vol.47
, Issue.4
, pp. 217-222
-
-
Linthorst, G.E.1
Bouwman, M.G.2
Wijburg, F.A.3
Aerts, J.M.F.G.4
Poorthuis, B.J.H.M.5
Hollak, C.E.M.6
-
52
-
-
78650235882
-
Protocol and methodology of the stroke in young fabry patients (sifap1) study: A prospective multicenter european study of 5,024 young stroke patients aged 1855 years
-
Rolfs A., Martus P., Heuschmann P. U., Grittner U., Holzhausen M., Tatlisumak T., Bttcher T., Fazekas F., Enzinger C., Ropele S., Schmidt R., Riess O., Norrving B., Protocol and methodology of the stroke in young fabry patients (sifap1) study: a prospective multicenter european study of 5,024 young stroke patients aged 1855 years Cerebrovascular Diseases 2011 31 3 253 262
-
(2011)
Cerebrovascular Diseases
, vol.31
, Issue.3
, pp. 253-262
-
-
Rolfs, A.1
Martus, P.2
Heuschmann, P.U.3
Grittner, U.4
Holzhausen, M.5
Tatlisumak, T.6
Bttcher, T.7
Fazekas, F.8
Enzinger, C.9
Ropele, S.10
Schmidt, R.11
Riess, O.12
Norrving, B.13
-
53
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease
-
DOI 10.1056/NEJM200107053450102
-
Eng C. M., Guffon N., Wilcox W. R., Germain D. P., Lee P., Waldek S., Caplan L., Linthorst G. E., Desnick R. J., Safety and efficacy of recombinant human -galactosidase a replacement therapy in Fabry's disease New England Journal of Medicine 2001 345 1 9 16 (Pubitemid 32634266)
-
(2001)
New England Journal of Medicine
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
54
-
-
79956274761
-
Treatment of Fabry disease: Current and emerging strategies
-
Rozenfeld P., Neumann P. M., Treatment of Fabry disease: current and emerging strategies Current Pharmaceutical Biotechnology 2011 12 6 916 922
-
(2011)
Current Pharmaceutical Biotechnology
, vol.12
, Issue.6
, pp. 916-922
-
-
Rozenfeld, P.1
Neumann, P.M.2
-
55
-
-
33846908304
-
Agalsidase-beta therapy for advanced fabry disease: A randomized trial
-
Banikazemi M., Bultas J., Waldek S., Wilcox W. R., Whitley C. B., McDonald M., Finkel R., Packman S., Bichet D. G., Warnock D. G., Desnick R. J., Agalsidase-beta therapy for advanced fabry disease: a randomized trial Annals of Internal Medicine 2007 146 2 77 86 (Pubitemid 351640010)
-
(2007)
Annals of Internal Medicine
, vol.146
, Issue.2
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
Wilcox, W.R.4
Whitley, C.B.5
McDonald, M.6
Finkel, R.7
Packman, S.8
Bichet, D.G.9
Warnock, D.G.10
Desnick, R.J.11
-
56
-
-
51749110203
-
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
-
Teitcher M., Weinerman S., Whybra C., Beck M., Sharon N., Elstein D., Altarescu G., Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease Genetica 2008 134 3 377 383
-
(2008)
Genetica
, vol.134
, Issue.3
, pp. 377-383
-
-
Teitcher, M.1
Weinerman, S.2
Whybra, C.3
Beck, M.4
Sharon, N.5
Elstein, D.6
Altarescu, G.7
-
57
-
-
25444446897
-
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: A cross-sectional study of a large cohort of clinically affected heterozygous women
-
DOI 10.1097/01.md.0000178976.62537.6b
-
Gupta S., Ries M., Kotsopoulos S., Schiffmann R., The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women Medicine 2005 84 5 261 268 (Pubitemid 41368479)
-
(2005)
Medicine
, vol.84
, Issue.5
, pp. 261-268
-
-
Gupta, S.1
Ries, M.2
Kotsopoulos, S.3
Schiffmann, R.4
-
58
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease
-
DOI 10.1681/ASN.2006080816
-
Germain D. P., Waldek S., Banikazemi M., Bushinsky D. A., Charrow J., Desnick R. J., Lee P., Loew T., Vedder A. C., Abichandani R., Wilcox W. R., Guffon N., Sustained, long-term renal stabilization after 54 months of agalsidase therapy in patients with fabry disease Journal of the American Society of Nephrology 2007 18 5 1547 1557 (Pubitemid 46717522)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.5
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.A.4
Charrow, J.5
Desnick, R.J.6
Lee, P.7
Loew, T.8
Vedder, A.C.9
Abichandani, R.10
Wilcox, W.R.11
Guffon, N.12
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