-
1
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds, VIII ed. New York: The Mc-Graw-Hill Companies
-
Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. VIII ed. New York: The Mc-Graw-Hill Companies, 2001;3733-74.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001;38:769-75.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0035667062
-
Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
-
Whybra C, Kampmann C, Willers I, et al. Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-24.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 715-724
-
-
Whybra, C.1
Kampmann, C.2
Willers, I.3
-
4
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347-52.
-
(2006)
J Med Genet
, vol.43
, pp. 347-352
-
-
Deegan, P.B.1
Baehner, A.F.2
Barba Romero, M.A.3
-
5
-
-
0023904549
-
Nervous system involvement in Fabry's disease: Clinicopathological and biochemical correlation
-
Kaye EM, Kolodny EH, Logigian EL, et al. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 1988;23:505-9.
-
(1988)
Ann Neurol
, vol.23
, pp. 505-509
-
-
Kaye, E.M.1
Kolodny, E.H.2
Logigian, E.L.3
-
6
-
-
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, et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 2005;29:1-7.
-
(2005)
Virchows Arch
, vol.29
, pp. 1-7
-
-
Schiffmann, R.1
Rapkiewicz, A.2
Abu-Asab, M.3
-
7
-
-
0028052980
-
Stroke in Fabry's disease
-
Grewal RP. Stroke in Fabry's disease. J Neurol 1994;241:153-6.
-
(1994)
J Neurol
, vol.241
, pp. 153-156
-
-
Grewal, R.P.1
-
8
-
-
0029891216
-
Cerebrovascular complications of Fabry disease
-
Mitsias P, Levine S. Cerebrovascular complications of Fabry disease. Ann Neurol 1996;40:8-17.
-
(1996)
Ann Neurol
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.2
-
10
-
-
0031800927
-
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease
-
Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-9.
-
(1998)
Neurology
, vol.50
, pp. 1746-1749
-
-
Crutchfield, K.E.1
Patronas, N.J.2
Dambrosia, J.M.3
-
11
-
-
34249800685
-
The cerebral vasculopathy of Fabry Disease
-
Moore DF, Kaneski CR, Askari H, et al. The cerebral vasculopathy of Fabry Disease. J Neurol Sci 2007;257:258-63.
-
(2007)
J Neurol Sci
, vol.257
, pp. 258-263
-
-
Moore, D.F.1
Kaneski, C.R.2
Askari, H.3
-
12
-
-
27744479349
-
Non invasive evaluation of endothelial function in patients with Anderson-Fabry disease
-
Puccio D, Coppola G, Corrado E, et al. Non invasive evaluation of endothelial function in patients with Anderson-Fabry disease. Int Angiol 2005;24:295-9.
-
(2005)
Int Angiol
, vol.24
, pp. 295-299
-
-
Puccio, D.1
Coppola, G.2
Corrado, E.3
-
13
-
-
21144431735
-
Effect of genetic modifiers on cerebral lesions in Fabry disease
-
Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005;64:2148-50.
-
(2005)
Neurology
, vol.64
, pp. 2148-2150
-
-
Altarescu, G.1
Moore, D.F.2
Schiffmann, R.3
-
14
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore DF, Altarescu G, Ling GSF, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 2002;33:525-31.
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.F.3
-
15
-
-
2542436148
-
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease
-
Hilz MJ, Kolodny EH, Brys M, et al. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 2004;251:564-70.
-
(2004)
J Neurol
, vol.251
, pp. 564-570
-
-
Hilz, M.J.1
Kolodny, E.H.2
Brys, M.3
-
16
-
-
16844381552
-
FOS investigators. Natural history of the cerebrovascular complications of Fabry disease
-
Mehta A, Ginsberg L, FOS investigators. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl 2005;94:24-7.
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 24-27
-
-
Mehta, A.1
Ginsberg, L.2
-
17
-
-
33745155419
-
-
Goldstein LB, Adams R, Alberts MJ, et al. Primary prevention of ischemic stroke: a guideline from the American Heart Association/American Stroke Association Stroke Council: cosponsored by the Atherosclerotic Peripheral Vascular Disease Interdisciplinary Working Group; Cardiovascular Nursing Council; Clinical Cardiology Council; Nutrition, Physical Activity, and Metabolism Council; and the Quality of Care and Outcomes Research Interdisciplinary Working Group: the American Academy of Neurology affirms the value of this guideline. Stroke 2006;37:1583-633.
-
Goldstein LB, Adams R, Alberts MJ, et al. Primary prevention of ischemic stroke: a guideline from the American Heart Association/American Stroke Association Stroke Council: cosponsored by the Atherosclerotic Peripheral Vascular Disease Interdisciplinary Working Group; Cardiovascular Nursing Council; Clinical Cardiology Council; Nutrition, Physical Activity, and Metabolism Council; and the Quality of Care and Outcomes Research Interdisciplinary Working Group: the American Academy of Neurology affirms the value of this guideline. Stroke 2006;37:1583-633.
-
-
-
-
18
-
-
24944513802
-
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease
-
Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005;96:842-6.
-
(2005)
Am J Cardiol
, vol.96
, pp. 842-846
-
-
Shah, J.S.1
Hughes, D.A.2
Sachdev, B.3
-
20
-
-
33646920981
-
Imaging Features of Fabry disease
-
Lidove O, Klein I, Lelièvre JD, et al. Imaging Features of Fabry disease. AJR 2006;186:1184-91.
-
(2006)
AJR
, vol.186
, pp. 1184-1191
-
-
Lidove, O.1
Klein, I.2
Lelièvre, J.D.3
-
21
-
-
0037938617
-
Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR Imaging sign of Fabry disease
-
Moore DF, Frank Y, Schiffmann R, et al. Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR Imaging sign of Fabry disease. Am J Neuroradiol 2003;24:1096-101.
-
(2003)
Am J Neuroradiol
, vol.24
, pp. 1096-1101
-
-
Moore, D.F.1
Frank, Y.2
Schiffmann, R.3
-
22
-
-
0035811624
-
International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, et al. International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
23
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin 3rd, H.A.3
-
24
-
-
55249115247
-
-
Rankin J. Cerebral vascular accidents in patients over the age of 60. I. General considerations. II. Prognosis. II. Diagnosis and treatment. Scott Med J 1957;2(4-5).
-
Rankin J. Cerebral vascular accidents in patients over the age of 60. I. General considerations. II. Prognosis. II. Diagnosis and treatment. Scott Med J 1957;2(4-5).
-
-
-
-
25
-
-
0025688231
-
EuroQol - a new facility for the measurement of health-related quality of life
-
EuroQol Group
-
EuroQol Group. EuroQol - a new facility for the measurement of health-related quality of life. Health Policy 1990;16:199-208.
-
(1990)
Health Policy
, vol.16
, pp. 199-208
-
-
-
26
-
-
0023263172
-
MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging
-
Fazekas F, Chawluk JB, Alavi A, et al. MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging. Am J Neuroradiol 1987;8:421-6.
-
(1987)
Am J Neuroradiol
, vol.8
, pp. 421-426
-
-
Fazekas, F.1
Chawluk, J.B.2
Alavi, A.3
-
27
-
-
23844506150
-
White matter lesion severity in male and female patients with Fabry disease
-
Fellgiebel A, Muller MJ, Mazanek M, et al. White matter lesion severity in male and female patients with Fabry disease. Neurology 2005;65:600-2.
-
(2005)
Neurology
, vol.65
, pp. 600-602
-
-
Fellgiebel, A.1
Muller, M.J.2
Mazanek, M.3
-
28
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-60.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
29
-
-
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
-
30
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366:1794-6.
-
(2005)
Lancet
, vol.366
, pp. 1794-1796
-
-
Rolfs, A.1
Böttcher, T.2
Zschiesche, M.3
-
31
-
-
0036234315
-
Significance of white matter high intensity lesions as a predictor of stroke from arteriosclerosis
-
Yamauchi H, Fukuda H, Oyanagi C. Significance of white matter high intensity lesions as a predictor of stroke from arteriosclerosis. J Neurol Neurosurg Psychiatry 2002;72:576-82.
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.72
, pp. 576-582
-
-
Yamauchi, H.1
Fukuda, H.2
Oyanagi, C.3
-
32
-
-
2942562555
-
CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy
-
Jardim L, Vedolini L, Schwartz IVD, et al. CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004;27:229-40.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 229-240
-
-
Jardim, L.1
Vedolini, L.2
Schwartz, I.V.D.3
-
33
-
-
33750244791
-
White matter lesions in Fabry disease before and after enzyme replacement therapy. A 2-year follow-up
-
Jardim LB, Aesse F, Vedolin LM, et al. White matter lesions in Fabry disease before and after enzyme replacement therapy. A 2-year follow-up. Arq Neuropsiquiatr 2006;64:711-7.
-
(2006)
Arq Neuropsiquiatr
, vol.64
, pp. 711-717
-
-
Jardim, L.B.1
Aesse, F.2
Vedolin, L.M.3
|