-
1
-
-
84980085880
-
A case of angiokeratoma
-
Anderson W.A. A case of angiokeratoma. Br J Dermatol 18 (1898) 113-117
-
(1898)
Br J Dermatol
, vol.18
, pp. 113-117
-
-
Anderson, W.A.1
-
2
-
-
78651055963
-
Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly
-
Brown A., and Milne J. Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly. Glasgow Med J 33 (1952) 361
-
(1952)
Glasgow Med J
, vol.33
, pp. 361
-
-
Brown, A.1
Milne, J.2
-
3
-
-
0000250834
-
Angiokeratoma corporis diffusum (Fabry's disease in two brothers)
-
Bethune J., Landrigan P., and Chipman C. Angiokeratoma corporis diffusum (Fabry's disease in two brothers). N Engl J Med 264 (1961) 1280
-
(1961)
N Engl J Med
, vol.264
, pp. 1280
-
-
Bethune, J.1
Landrigan, P.2
Chipman, C.3
-
4
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
-
Rolfs A., Bottcher T., Zschiesche M., Morris P., Winchester B., Bauer P., et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366 (2005) 1794-1796
-
(2005)
Lancet
, vol.366
, pp. 1794-1796
-
-
Rolfs, A.1
Bottcher, T.2
Zschiesche, M.3
Morris, P.4
Winchester, B.5
Bauer, P.6
-
5
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
Mitsias P., and Levine S.R. Cerebrovascular complications of Fabry's disease. Ann Neurol 40 (1996) 8-17
-
(1996)
Ann Neurol
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
6
-
-
0347123263
-
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions
-
Moore D.F., Altarescu G., Barker W.C., Patronas N.J., Herscovitch P., and Schiffmann R. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62 (2003) 231-240
-
(2003)
Brain Res Bull
, vol.62
, pp. 231-240
-
-
Moore, D.F.1
Altarescu, G.2
Barker, W.C.3
Patronas, N.J.4
Herscovitch, P.5
Schiffmann, R.6
-
7
-
-
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., and Butman J.A. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24 (2003) 1096-1101
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1096-1101
-
-
Moore, D.F.1
Ye, F.2
Schiffmann, R.3
Butman, J.A.4
-
8
-
-
0034935252
-
Selective arterial distribution of cerebral hyperperfusion in Fabry disease
-
Moore D.F., Herscovitch P., and Schiffmann R. Selective arterial distribution of cerebral hyperperfusion in Fabry disease. J Neuroimaging 11 (2001) 303-307
-
(2001)
J Neuroimaging
, vol.11
, pp. 303-307
-
-
Moore, D.F.1
Herscovitch, P.2
Schiffmann, R.3
-
9
-
-
0030920511
-
The vascular dementia of Fabry's disease
-
Mendez M.F., Stanley T.M., Medel N.M., Li Z., and Tedesco D.T. The vascular dementia of Fabry's disease. Dement Geriatr Cogn Disord 8 (1997) 252-257
-
(1997)
Dement Geriatr Cogn Disord
, vol.8
, pp. 252-257
-
-
Mendez, M.F.1
Stanley, T.M.2
Medel, N.M.3
Li, Z.4
Tedesco, D.T.5
-
10
-
-
0015660216
-
Psychosis in Fabry disease and treatment with phenoxybenzamine
-
Liston E.H., Levine M.D., and Philippart M. Psychosis in Fabry disease and treatment with phenoxybenzamine. Arch Gen Psychiatry 29 (1973) 402-403
-
(1973)
Arch Gen Psychiatry
, vol.29
, pp. 402-403
-
-
Liston, E.H.1
Levine, M.D.2
Philippart, M.3
-
11
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)-investigation of symptomatic and presymptomatic patients
-
Morgan S.H., Rudge P., Smith S.J., Bronstein A.M., Kendall B.E., Holly E., et al. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)-investigation of symptomatic and presymptomatic patients. Q J Med 75 (1990) 491-507
-
(1990)
Q J Med
, vol.75
, pp. 491-507
-
-
Morgan, S.H.1
Rudge, P.2
Smith, S.J.3
Bronstein, A.M.4
Kendall, B.E.5
Holly, E.6
-
12
-
-
0026481522
-
Cerebrovascular manifestations in a female carrier of Fabry's disease
-
Grewal R.P., and McLatchey S.K. Cerebrovascular manifestations in a female carrier of Fabry's disease. Acta Neurol Belg 92 (1992) 36-40
-
(1992)
Acta Neurol Belg
, vol.92
, pp. 36-40
-
-
Grewal, R.P.1
McLatchey, S.K.2
-
13
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore D.F., Altarescu G., Ling G.S., Jeffries N., Frei K.P., Weibel T., et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33 (2002) 525-531
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.3
Jeffries, N.4
Frei, K.P.5
Weibel, T.6
-
14
-
-
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., et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 50 (1998) 1746-1749
-
(1998)
Neurology
, vol.50
, 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
-
15
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T., Azhar S., Dignat-George F., Brown E., Boutiere B., Altarescu G., et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 47 (2000) 229-233
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
-
16
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy
-
Moore D.F., Scott L.T., Gladwin M.T., Altarescu G., Kaneski C., Suzuki K., et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104 (2001) 1506-1512
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
Altarescu, G.4
Kaneski, C.5
Suzuki, K.6
-
17
-
-
0013155111
-
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
-
Moore D.F., Altarescu G., Herscovitch P., and Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol 2 (2002) 4
-
(2002)
BMC Neurol
, vol.2
, pp. 4
-
-
Moore, D.F.1
Altarescu, G.2
Herscovitch, P.3
Schiffmann, R.4
-
18
-
-
0036980793
-
Elevated CNS average diffusion constant in Fabry disease
-
Moore D.F., Schiffmann R., and Ulug A.M. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl 91 (2002) 67-68
-
(2002)
Acta Paediatr Suppl
, vol.91
, pp. 67-68
-
-
Moore, D.F.1
Schiffmann, R.2
Ulug, A.M.3
-
19
-
-
4744344117
-
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study
-
Moore D.F., Ye F., Brennan M.L., Gupta S., Barshop B.A., Steiner R.D., et al. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 20 (2004) 674-683
-
(2004)
J Magn Reson Imaging
, vol.20
, 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
-
20
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
Altarescu G., Moore D.F., Pursley R., Campia U., Goldstein S., Bryant M., et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 32 (2001) 1559-1562
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
Campia, U.4
Goldstein, S.5
Bryant, M.6
-
21
-
-
0042882811
-
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease
-
Stemper B., and Hilz M.J. Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease. J Neurol 250 (2003) 970-976
-
(2003)
J Neurol
, vol.250
, pp. 970-976
-
-
Stemper, B.1
Hilz, M.J.2
-
22
-
-
19944377541
-
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
-
Kalliokoski R.J., Kalliokoski K.K., Sundell J., Engblom E., Penttinen M., Kantola I., et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 28 (2005) 563-573
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 563-573
-
-
Kalliokoski, R.J.1
Kalliokoski, K.K.2
Sundell, J.3
Engblom, E.4
Penttinen, M.5
Kantola, I.6
-
23
-
-
0038178172
-
T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease
-
Takanashi J., Barkovich A.J., Dillon W.P., Sherr E.H., Hart K.A., and Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol 24 (2003) 916-921
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 916-921
-
-
Takanashi, J.1
Barkovich, A.J.2
Dillon, W.P.3
Sherr, E.H.4
Hart, K.A.5
Packman, S.6
-
24
-
-
2542436148
-
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease
-
Hilz M.J., Kolodny E.H., Brys M., Stemper B., Haendl T., and Marthol H. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 251 (2004) 564-570
-
(2004)
J Neurol
, vol.251
, pp. 564-570
-
-
Hilz, M.J.1
Kolodny, E.H.2
Brys, M.3
Stemper, B.4
Haendl, T.5
Marthol, H.6
-
25
-
-
0028294691
-
Vascular free radical release. Ex vivo and in vivo evidence for a flow-dependent endothelial mechanism
-
Laurindo F.R., Pedro Mde A., Barbeiro H.V., Pileggi F., Carvalho M.H., Augusto O., et al. Vascular free radical release. Ex vivo and in vivo evidence for a flow-dependent endothelial mechanism. Circ Res 74 (1994) 700-709
-
(1994)
Circ Res
, vol.74
, pp. 700-709
-
-
Laurindo, F.R.1
Pedro Mde, A.2
Barbeiro, H.V.3
Pileggi, F.4
Carvalho, M.H.5
Augusto, O.6
-
26
-
-
0642336899
-
Heparan sulfate proteoglycan is a mechanosensor on endothelial cells
-
Florian J.A., Kosky J.R., Ainslie K., Pang Z., Dull R.O., and Tarbell J.M. Heparan sulfate proteoglycan is a mechanosensor on endothelial cells. Circ Res 93 (2003) e136-e142
-
(2003)
Circ Res
, vol.93
-
-
Florian, J.A.1
Kosky, J.R.2
Ainslie, K.3
Pang, Z.4
Dull, R.O.5
Tarbell, J.M.6
-
27
-
-
33750691081
-
Mechanisms of cerebral vasodilation by superoxide, hydrogen peroxide, and peroxynitrite
-
Wei E.P., Kontos H.A., and Beckman J.S. Mechanisms of cerebral vasodilation by superoxide, hydrogen peroxide, and peroxynitrite. Am J Physiol 271 (1996) H1262-H1266
-
(1996)
Am J Physiol
, vol.271
-
-
Wei, E.P.1
Kontos, H.A.2
Beckman, J.S.3
-
28
-
-
33645458978
-
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
-
Schiffmann R., Rapkiewicz A., Abu-Asab M., Ries M., Askari H., Tsokos M., et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch (2005) 1-7
-
(2005)
Virchows Arch
, pp. 1-7
-
-
Schiffmann, R.1
Rapkiewicz, A.2
Abu-Asab, M.3
Ries, M.4
Askari, H.5
Tsokos, M.6
-
29
-
-
13444283308
-
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency
-
Bodary P.F., Shen Y., Vargas F.B., Bi X., Ostenso K.A., Gu S., et al. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation 111 (2005) 629-632
-
(2005)
Circulation
, vol.111
, pp. 629-632
-
-
Bodary, P.F.1
Shen, Y.2
Vargas, F.B.3
Bi, X.4
Ostenso, K.A.5
Gu, S.6
-
30
-
-
33845698287
-
Myeloperoxidase predicts risk for vasculopathic events in Fabry disease
-
Kaneski C.R., Moore D.F., Ries M., Zirzow G., and Schiffmann R. Myeloperoxidase predicts risk for vasculopathic events in Fabry disease. Neurology 67 (2006) 2045-2047
-
(2006)
Neurology
, vol.67
, pp. 2045-2047
-
-
Kaneski, C.R.1
Moore, D.F.2
Ries, M.3
Zirzow, G.4
Schiffmann, R.5
-
31
-
-
21144431735
-
Effect of genetic modifiers on cerebral lesions in Fabry disease
-
Altarescu G., Moore D.F., and Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 64 (2005) 2148-2150
-
(2005)
Neurology
, vol.64
, pp. 2148-2150
-
-
Altarescu, G.1
Moore, D.F.2
Schiffmann, R.3
-
32
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
Schiffmann R., Kopp J.B., Austin III H.A., Sabnis S., Moore D.F., Weibel T., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
-
33
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease
-
Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., et al. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
-
34
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
-
Schiffmann R., Ries M., Timmons M., Flaherty J.T., and Brady R.O. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21 (2006) 345-354
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
35
-
-
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., et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75 (2004) 65-74
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
-
36
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
Schiffmann R., Floeter M.K., Dambrosia J.M., Gupta S., Moore D.F., Sharabi Y., et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28 (2003) 703-710
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
Gupta, S.4
Moore, D.F.5
Sharabi, Y.6
-
37
-
-
34249780734
-
-
Schiffmann R, Askari H, Timmons T, Robinson C, Benko W, Brady RO, Ries M. Weekly Enzyme replacement therapy may slow decline of renal tunction in Fabry patients on long-term biweekly dosing. J Am Soc Nephrol, in press.
-
-
-
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