-
1
-
-
0034614125
-
Clinical features of and recent advances in therapy for Fabry disease
-
Brady, R. O. & Schiffmann, R. Clinical features of and recent advances in therapy for Fabry disease. JAMA 284, 2771-2775 (2000).
-
(2000)
JAMA
, vol.284
, pp. 2771-2775
-
-
Brady, R.O.1
Schiffmann, R.2
-
2
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
Mitsias, P. & Levine, S. R. Cerebrovascular complications of Fabry's disease. Ann. Neurol. 40, 8-17 (1996).
-
(1996)
Ann. Neurol.
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
3
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot, K. D., Holmes, A. & Miners, A. H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. JAMA 38, 750-760 (2001). (Pubitemid 33032930)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
0028052980
-
Stroke in Fabry's disease
-
Grewal, R. P. Stroke in Fabry's disease. J. Neurol. 241, 153-156 (1994).
-
(1994)
J. Neurol.
, vol.241
, pp. 153-156
-
-
Grewal, R.P.1
-
5
-
-
55249121867
-
Central nervous systeminvolvement in Anderson Fabry disease: A clinical and MRI retrospective study
-
Buechner, S., Moretti, M., Burlina, A. P., Cei, G., Manara, R., Ricci, R. et al. Central nervous systeminvolvement in Anderson Fabry disease: a clinical and MRI retrospective study. J. Neurol. Neurosurg. Psychiatry. 79, 1249-1254 (2008).
-
(2008)
J. Neurol. Neurosurg. Psychiatry.
, vol.79
, pp. 1249-1254
-
-
Buechner, S.1
Moretti, M.2
Burlina, A.P.3
Cei, G.4
Manara, R.5
Ricci, R.6
-
6
-
-
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, 1746-1749 (1998).
-
(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
-
7
-
-
12444319931
-
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype
-
Nakao, S., Kodama, C., Takenaka, T., Tanaka, A., Yasumoto, Y., Yoshida, A. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int. 64, 801-807 (2003).
-
(2003)
Kidney Int
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
Tanaka, A.4
Yasumoto, Y.5
Yoshida, A.6
-
8
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M. et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 333, 288-293 (1995).
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
Tahara, M.6
-
9
-
-
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, 1794-1796 (2005).
-
(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
-
10
-
-
27844441232
-
Fabry's disease-an important risk factor for stroke
-
Schiffmann, R. & Ries, M. Fabry's disease-an important risk factor for stroke. Lancet. 366, 1754-1756 (2005).
-
(2005)
Lancet
, vol.366
, pp. 1754-1756
-
-
Schiffmann, R.1
Ries, M.2
-
11
-
-
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. AJNR Am. J. Neuroradiol. 24, 1096-1101 (2003).
-
(2003)
AJNR Am. J. Neuroradiol.
, vol.24
, pp. 1096-1101
-
-
Moore, D.F.1
Ye, F.2
Schiffmann, R.3
Butman, J.A.4
-
12
-
-
0034970245
-
Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper [4]
-
DOI 10.1016/S0009-8981(01)00478-8, PII S0009898101004788
-
Chamoles, N. A., Blanco, M. & Gaggioli, D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin. Chim. Acta. 308, 195-196 (2001). (Pubitemid 32537628)
-
(2001)
Clinica Chimica Acta
, vol.308
, Issue.1-2
, pp. 195-196
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
13
-
-
84965274936
-
Angiokeratoma corporis diffusum
-
Bass, B. H. Angiokeratoma corporis diffusum. Br. Med. J. 1, 1418 (1958).
-
(1958)
Br. Med. J.
, vol.1
, pp. 1418
-
-
Bass, B.H.1
-
14
-
-
73649168584
-
Angiokeratoma corporis diffusum. A clinical study of eight affected families
-
Wise, D., Jellinek, E. H. & Wallace, H. J. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q. J. Med. 31, 177-206 (1962).
-
(1962)
Q. J. Med.
, vol.31
, pp. 177-206
-
-
Wise, D.1
Jellinek, E.H.2
Wallace, H.J.3
-
15
-
-
0014229451
-
Fabry's disease (angiokeratoma corporis diffusum). A report of 5 cases with pain in the extremities as the chief symptom
-
Steward, V. W. & Hitchcock, C. Fabry's disease (angiokeratoma corporis diffusum). A report of 5 cases with pain in the extremities as the chief symptom. Pathol. Eur. 3, 377-388 (1968).
-
(1968)
Pathol. Eur.
, vol.3
, pp. 377-388
-
-
Steward, V.W.1
Hitchcock, C.2
-
16
-
-
0035178136
-
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease
-
Yoshitama, T., Nakao, S., Takenaka, T., Teraguchi, H., Sasaki, T., Kodama, C. et al. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am. J. Cardiol. 87, 71-75 (2001).
-
(2001)
Am. J. Cardiol.
, vol.87
, pp. 71-75
-
-
Yoshitama, T.1
Nakao, S.2
Takenaka, T.3
Teraguchi, H.4
Sasaki, T.5
Kodama, C.6
-
17
-
-
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. 40, 788-794 (2009).
-
(2009)
Stroke
, vol.40
, pp. 788-794
-
-
Sims, K.1
Politei, J.2
Banikazemi, M.3
Lee, P.4
-
19
-
-
77951725239
-
An experience of enzyme therapy on adult-onset atypical Fabry's disease
-
Japanese
-
Sakuishi, K., Hashimoto, A., Ugawa, Y. & Tuji, S. An experience of enzyme therapy on adult-onset atypical Fabry's disease. Shinkeinaika. 62, 62-69 (2005). (in Japanese).
-
(2005)
Shinkeinaika
, vol.62
, pp. 62-69
-
-
Sakuishi, K.1
Hashimoto, A.2
Ugawa, Y.3
Tuji, S.4
-
20
-
-
34249800685
-
The cerebral vasculopathy of Fabry disease
-
Moore, D. F., Kaneski, C. R., Askari, H. & Schiffmann, R. The cerebral vasculopathy of Fabry disease. J. Neurol. Sci. 257, 258-263 (2007).
-
(2007)
J. Neurol. Sci.
, vol.257
, pp. 258-263
-
-
Moore, D.F.1
Kaneski, C.R.2
Askari, H.3
Schiffmann, R.4
-
21
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore, D. F., Altarescu, G., Ling, G. S. F., Jeffries, N., Frei, K. P., Weibel, T. et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 33, 525-531 (2002).
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.F.3
Jeffries, N.4
Frei, K.P.5
Weibel, T.6
|