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Volumn , Issue , 2011, Pages

Fabry disease and early stroke

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; ALPHA GALACTOSIDASE; ANGIOTENSIN 1 RECEPTOR ANTAGONIST; ANGIOTENSIN 2 RECEPTOR ANTAGONIST; ANTIINFLAMMATORY AGENT; ANTILIPEMIC AGENT; CHAPERONE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLYCOSPHINGOLIPID; VITAMIN D RECEPTOR;

EID: 80052759087     PISSN: None     EISSN: 20420056     Source Type: Journal    
DOI: 10.4061/2011/615218     Document Type: Review
Times cited : (22)

References (58)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • -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
  • 3
    • 0035157764 scopus 로고    scopus 로고
    • 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
  • 5
    • 0034754467 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 10
    • 33747012109 scopus 로고    scopus 로고
    • 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
  • 14
    • 0036436320 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 20
    • 34249800685 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 23
    • 0034935252 scopus 로고    scopus 로고
    • 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
  • 27
    • 0026481522 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 32
    • 0037938617 scopus 로고    scopus 로고
    • 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
  • 35
    • 25444446897 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 39
    • 27844441232 scopus 로고    scopus 로고
    • 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
  • 43
    • 33846265851 scopus 로고    scopus 로고
    • 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
  • 45
    • 0015583864 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 54
    • 79956274761 scopus 로고    scopus 로고
    • 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
  • 57
    • 25444446897 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.