-
1
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York, New York
-
Desnick R.J., Ioannou Y.A., and Eng C.M. α-Galactosidase A deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease. 8th Ed. Vol 3 (2001), McGraw-Hill, New York, New York 3733-3774
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease. 8th Ed.
, vol.3
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick R.J., Brady R., Barranger J., Collins A.J., Germain D.P., Goldman M., Grabowski G., Packman S., and Wilcox W.R. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
Collins, A.J.4
Germain, D.P.5
Goldman, M.6
Grabowski, G.7
Packman, S.8
Wilcox, W.R.9
-
3
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M., Bradová V., Šmíd F., Budešíinsky M., Harzer K., Kustermann-Kuhn B., Ledvinova J., Belohlavek V.K., and Dorazilova V. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417 (1990) 449-455
-
(1990)
Virchows Arch A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradová, V.2
Šmíd, F.3
Budešíinsky, M.4
Harzer, K.5
Kustermann-Kuhn, B.6
Ledvinova, J.7
Belohlavek, V.K.8
Dorazilova, V.9
-
4
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W., Eng C.M., Fitzmaurice T.F., Erdmann E., Hübner G., Olsen E.G.J., Christomanou H., Kandolf R., Bishop D.F., and Desnick R.J. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324 (1991) 395-399
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
Erdmann, E.4
Hübner, G.5
Olsen, E.G.J.6
Christomanou, H.7
Kandolf, R.8
Bishop, D.F.9
Desnick, R.J.10
-
5
-
-
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., Yoshida A., Kuriyama M., Hayashibe H., Sakuraba H., and Tanaka H. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
-
(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
Yoshida, A.7
Kuriyama, M.8
Hayashibe, H.9
Sakuraba, H.10
Tanaka, H.11
-
6
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B., Takenaka T., Teraguchi H., Tei C., Lee P., McKenna W.J., and Elliott P.M. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
Tei, C.4
Lee, P.5
McKenna, W.J.6
Elliott, P.M.7
-
7
-
-
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., Tanaka A., Kisanuki A., and Tei C. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 87 (2001) 71-75
-
(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
Tanaka, A.7
Kisanuki, A.8
Tei, C.9
-
8
-
-
0015583171
-
Asymmetric septal hypertrophy: echocardiographic identification of the pathognomonic anatomic abnormality of IHSS
-
Henry W.L., Clark C.E., and Epstein S.E. Asymmetric septal hypertrophy: echocardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation 47 (1973) 225-233
-
(1973)
Circulation
, vol.47
, pp. 225-233
-
-
Henry, W.L.1
Clark, C.E.2
Epstein, S.E.3
-
9
-
-
0029924753
-
A practical guide to assessment of ventricular diastolic function using Doppler echocardiography
-
Cohen G.I., Pietrolungo J.F., Thomas J.D., and Klein A.L. A practical guide to assessment of ventricular diastolic function using Doppler echocardiography. J Am Coll Cardiol 27 (1996) 1753-1760
-
(1996)
J Am Coll Cardiol
, vol.27
, pp. 1753-1760
-
-
Cohen, G.I.1
Pietrolungo, J.F.2
Thomas, J.D.3
Klein, A.L.4
-
10
-
-
0029047347
-
New non-invasive index for combined systolic and diastolic ventricular function
-
Tei C. New non-invasive index for combined systolic and diastolic ventricular function. J Cardiol 26 (1995) 135-136
-
(1995)
J Cardiol
, vol.26
, pp. 135-136
-
-
Tei, C.1
-
11
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., Caplan L., Linthorst G.E., and Desnick R.J. Safety and efficacy of recombinant human α-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
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
12
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R., Murray G.J., Treco D., Daniel P., Sellos-Moura M., Myers M., Quirk J.M., Zirzow E., Liang T.J., Kreps C., et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97 (2000) 365-370
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
Daniel, P.4
Sellos-Moura, M.5
Myers, M.6
Quirk, J.M.7
Zirzow, E.8
Liang, T.J.9
Kreps, C.10
-
13
-
-
12944269059
-
Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells
-
Takenaka T., Murray G.J., Qin G., Quirk J.M., Ohshima T., Qasba P., Clark K., Kulkarni A.B., Brady R.O., and Medin J.A. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci U S A 97 (2000) 7515-7520
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 7515-7520
-
-
Takenaka, T.1
Murray, G.J.2
Qin, G.3
Quirk, J.M.4
Ohshima, T.5
Qasba, P.6
Clark, K.7
Kulkarni, A.B.8
Brady, R.O.9
Medin, J.A.10
-
14
-
-
10044223213
-
Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors
-
Yoshimitsu M., Sato T., Tao K., Walia J.S., Rasaiah V.I., Sleep G.T., Murray G.J., Poeppl A.G., Underwood J., West L., et al. Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors. Proc Natl Acad Sci USA 101 (2004) 16909-16914
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 16909-16914
-
-
Yoshimitsu, M.1
Sato, T.2
Tao, K.3
Walia, J.S.4
Rasaiah, V.I.5
Sleep, G.T.6
Murray, G.J.7
Poeppl, A.G.8
Underwood, J.9
West, L.10
-
15
-
-
0030246847
-
Doppler index combining systolic and diastolic myocardial performance: clinical value in cardiac amyloidosis
-
Tei C., Dujardin K.S., Hodge D.O., Kyle R.A., Tajik A.J., and Seward J.B. Doppler index combining systolic and diastolic myocardial performance: clinical value in cardiac amyloidosis. J Am Coll Cardiol 28 (1996) 658-664
-
(1996)
J Am Coll Cardiol
, vol.28
, pp. 658-664
-
-
Tei, C.1
Dujardin, K.S.2
Hodge, D.O.3
Kyle, R.A.4
Tajik, A.J.5
Seward, J.B.6
-
16
-
-
0019120413
-
The M-mode echocardiogram in Fabry's disease
-
Bass J.L., Shrivastava S., Grabowski G.A., Desnick R.J., and Moller J.H. The M-mode echocardiogram in Fabry's disease. Am Heart J 100 (1980) 807-812
-
(1980)
Am Heart J
, vol.100
, pp. 807-812
-
-
Bass, J.L.1
Shrivastava, S.2
Grabowski, G.A.3
Desnick, R.J.4
Moller, J.H.5
-
17
-
-
0344430257
-
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: evidence for a disease specific abnormality of the myocardial interstitium
-
Moon J.C.C., Sachdev B., Elkington A.G., McKenna W.J., Mehta A., Pennell D.J., Leed P.J., and Elliott P.M. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24 (2003) 2151-2155
-
(2003)
Eur Heart J
, vol.24
, pp. 2151-2155
-
-
Moon, J.C.C.1
Sachdev, B.2
Elkington, A.G.3
McKenna, W.J.4
Mehta, A.5
Pennell, D.J.6
Leed, P.J.7
Elliott, P.M.8
-
18
-
-
0037461097
-
Early detection of Fabry cardiomyopathy by tissue Doppler imaging
-
Pieroni M., Chimenti C., Ricci R., Sale P., Russo M.A., and Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107 (2003) 1978-1984
-
(2003)
Circulation
, vol.107
, pp. 1978-1984
-
-
Pieroni, M.1
Chimenti, C.2
Ricci, R.3
Sale, P.4
Russo, M.A.5
Frustaci, A.6
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