-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-1167.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
2
-
-
0000889058
-
Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001; 3733-3774.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991; 324: 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
Hubner, G.5
Olsen, E.G.6
-
4
-
-
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 1995; 333: 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
-
5
-
-
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 WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 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
-
6
-
-
33745511695
-
The cardiomyopathy
-
Zipes DP, Libby P, Bonow RO, Braunwald E, editors. Philadelphia: Elsevier Saunders
-
Wynne J, Braunwald E. The cardiomyopathy. In: Zipes DP, Libby P, Bonow RO, Braunwald E, editors. Heart disease, 7th edn. Philadelphia: Elsevier Saunders; 2005; 1659-1696.
-
(2005)
Heart Disease, 7th Edn.
, pp. 1659-1696
-
-
Wynne, J.1
Braunwald, E.2
-
7
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001; 285: 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
-
8
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, 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 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
Germain, D.P.4
Lee, P.5
Waldek, S.6
-
9
-
-
0141765881
-
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
-
Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study. Circulation 2003; 108: 1299-1301.
-
(2003)
Circulation
, vol.108
, pp. 1299-1301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
Sandstede, J.4
Turschner, O.5
Voelker, W.6
-
10
-
-
0029836764
-
Correction in trans for Fabry disease: Expression, secretion, and uptake of alpha-galactosidase a in patient-derived cells driven by a high-titer recombinant retroviral vector
-
Medin JA, Tudor M, Simovitch R, Quirk JM, Jacobson S, Murray GJ, et al. Correction in trans for Fabry disease: Expression, secretion, and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc Natl Acad Sci USA 1996; 93: 7917-7922.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 7917-7922
-
-
Medin, J.A.1
Tudor, M.2
Simovitch, R.3
Quirk, J.M.4
Jacobson, S.5
Murray, G.J.6
-
11
-
-
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 GJ, Qin G, Quirk JM, Ohshima T, Qasba P, et al. 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 USA 2000; 97: 7515-7520.
-
(2000)
Proc Natl Acad Sci USA
, 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
-
12
-
-
0035853120
-
Preselective gene therapy for Fabry disease
-
Qin G, Takenaka T, Telsch K, Kelley L, Howard T, Levade T, et al. Preselective gene therapy for Fabry disease. Proc Natl Acad Sci USA 2001; 98: 3428-3433.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 3428-3433
-
-
Qin, G.1
Takenaka, T.2
Telsch, K.3
Kelley, L.4
Howard, T.5
Levade, T.6
-
13
-
-
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 JS, Rasaiah VI, Sleep GT, 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 2004; 101: 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
-
14
-
-
33750561600
-
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells
-
[Epub ahead of print]
-
Yoshimitsu M, Higuchi K, Ramsubir S, Nonaka T, Rasaiah VI, Siatskas C, et al. Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells. Gene Ther 2006; Aug 24 [Epub ahead of print].
-
(2006)
Gene Ther
, vol.AUG. 24
-
-
Yoshimitsu, M.1
Higuchi, K.2
Ramsubir, S.3
Nonaka, T.4
Rasaiah, V.I.5
Siatskas, C.6
-
15
-
-
0037129435
-
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
-
Hacein-Bey-Abina S, Le Deist F, Carlier F, Bouneaud C, Hue C, De Villartay JP, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 2002; 346: 1185-1193.
-
(2002)
N Engl J Med
, vol.346
, pp. 1185-1193
-
-
Hacein-Bey-Abina, S.1
Le Deist, F.2
Carlier, F.3
Bouneaud, C.4
Hue, C.5
De Villartay, J.P.6
-
16
-
-
0037189401
-
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
-
Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 2002; 296: 2410-2413.
-
(2002)
Science
, vol.296
, pp. 2410-2413
-
-
Aiuti, A.1
Slavin, S.2
Aker, M.3
Ficara, F.4
Deola, S.5
Mortellaro, A.6
-
17
-
-
19944421384
-
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
-
Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J, et al. Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 2004; 364: 2181-2187.
-
(2004)
Lancet
, vol.364
, pp. 2181-2187
-
-
Gaspar, H.B.1
Parsley, K.L.2
Howe, S.3
King, D.4
Gilmour, K.C.5
Sinclair, J.6
-
18
-
-
0037448352
-
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency
-
Hacein-Bey-Abina S, von Kalle C, Schmidt M, Le Deist F, Wulffraat N, McIntyre E, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2003; 348: 255-256.
-
(2003)
N Engl J Med
, vol.348
, pp. 255-256
-
-
Hacein-Bey-Abina, S.1
Von Kalle, C.2
Schmidt, M.3
Le Deist, F.4
Wulffraat, N.5
McIntyre, E.6
-
19
-
-
0142084745
-
LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
-
Hacein-Bey-Abina S, von Kalle C, Schmidt M, McCormack MP, Wulffraat N, Leboulch P, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003; 302: 415-419.
-
(2003)
Science
, vol.302
, pp. 415-419
-
-
Hacein-Bey-Abina, S.1
Von Kalle, C.2
Schmidt, M.3
McCormack, M.P.4
Wulffraat, N.5
Leboulch, P.6
-
20
-
-
0022471881
-
Cell cultures of adult cardiomyocytes as models of the myocardium
-
Jacobson SL, Piper HM. Cell cultures of adult cardiomyocytes as models of the myocardium. J Mol Cell Cardiol 1986; 18: 661-678.
-
(1986)
J Mol Cell Cardiol
, vol.18
, pp. 661-678
-
-
Jacobson, S.L.1
Piper, H.M.2
-
21
-
-
0028966309
-
In vivo gene transfer into injured carotid arteries: Optimization and evaluation of acute toxicity
-
Schulick AH, Newman KD, Virmani R, Dichek DA. In vivo gene transfer into injured carotid arteries: Optimization and evaluation of acute toxicity. Circulation 1995; 91: 2407-2414.
-
(1995)
Circulation
, vol.91
, pp. 2407-2414
-
-
Schulick, A.H.1
Newman, K.D.2
Virmani, R.3
Dichek, D.A.4
-
22
-
-
0029996147
-
In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector
-
Naldini L, Blomer U, Gallay P, Ory D, Mulligan R, Gage FH, et al. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 1996; 272: 263-267.
-
(1996)
Science
, vol.272
, pp. 263-267
-
-
Naldini, L.1
Blomer, U.2
Gallay, P.3
Ory, D.4
Mulligan, R.5
Gage, F.H.6
-
23
-
-
0027376309
-
A nuclear localization signal within HIV-1 matrix protein that governs infection of non-dividing cells
-
Bukrinsky MI, Haggerty S, Dempsey MP, Sharova N, Adzhubel A, Spitz L, et al. A nuclear localization signal within HIV-1 matrix protein that governs infection of non-dividing cells. Nature 1993; 365: 666-669.
-
(1993)
Nature
, vol.365
, pp. 666-669
-
-
Bukrinsky, M.I.1
Haggerty, S.2
Dempsey, M.P.3
Sharova, N.4
Adzhubel, A.5
Spitz, L.6
-
24
-
-
0026654682
-
Human immunodeficiency virus infection of cells arrested in the cell cycle
-
Lewis P, Hensel M, Emerman M. Human immunodeficiency virus infection of cells arrested in the cell cycle. EMBO J 1992; 11: 3053-3058.
-
(1992)
EMBO J
, vol.11
, pp. 3053-3058
-
-
Lewis, P.1
Hensel, M.2
Emerman, M.3
-
25
-
-
0028234528
-
The nuclear localization signal of the matrix protein of human immunodeficiency virus type 1 allows the establishment of infection in macrophages and quiescent T lymphocytes
-
von Schwedler U, Kornbluth RS, Trono D. The nuclear localization signal of the matrix protein of human immunodeficiency virus type 1 allows the establishment of infection in macrophages and quiescent T lymphocytes. Proc Natl Acad Sci USA 1994; 91: 6992-6996.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6992-6996
-
-
Von Schwedler, U.1
Kornbluth, R.S.2
Trono, D.3
-
26
-
-
0029993858
-
Efficient transfer, integration, and sustained long-term expression of the transgene in adult rat brains injected with a lentiviral vector
-
Naldini L, Blomer U, Gage FH, Trono D, Verma IM. Efficient transfer, integration, and sustained long-term expression of the transgene in adult rat brains injected with a lentiviral vector. Proc Natl Acad Sci USA 1996; 93: 11382-11388.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 11382-11388
-
-
Naldini, L.1
Blomer, U.2
Gage, F.H.3
Trono, D.4
Verma, I.M.5
-
27
-
-
0036732734
-
Lentiviral vectors for delivery of genes into neonatal and adult ventricular cardiac myocytes in vitro and in vivo
-
Zhao J, Pettigrew GJ, Thomas J, Vandenberg JI, Delriviere L, Bolton EM, et al. Lentiviral vectors for delivery of genes into neonatal and adult ventricular cardiac myocytes in vitro and in vivo. Basic Res Cardiol 2002; 97: 348-358.
-
(2002)
Basic Res Cardiol
, vol.97
, pp. 348-358
-
-
Zhao, J.1
Pettigrew, G.J.2
Thomas, J.3
Vandenberg, J.I.4
Delriviere, L.5
Bolton, E.M.6
-
28
-
-
0038742916
-
'Advanced' generation lentiviruses as efficient vectors for cardiomyocyte gene transduction in vitro and in vivo
-
Bonci D, Cittadini A, Latronico MVG, Borello U, Aycock JK, Drusco A, et al. 'Advanced' generation lentiviruses as efficient vectors for cardiomyocyte gene transduction in vitro and in vivo. Gene Ther 2003; 10: 630-636.
-
(2003)
Gene Ther
, vol.10
, pp. 630-636
-
-
Bonci, D.1
Cittadini, A.2
Latronico, M.V.G.3
Borello, U.4
Aycock, J.K.5
Drusco, A.6
-
29
-
-
12644284502
-
α-Galactosidase a deficient mice: A model of Fabry disease
-
Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, et al. α-Galactosidase A deficient mice: A model of Fabry disease. Proc Natl Acad Sci USA 1997; 94: 2540-2544.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2540-2544
-
-
Ohshima, T.1
Murray, G.J.2
Swaim, W.D.3
Longenecker, G.4
Quirk, J.M.5
Cardarelli, C.O.6
-
30
-
-
0029084044
-
Favorable left ventricular remodeling following large myocardial infarction by exercise training. Effect on ventricular morphology and gene expression
-
Orenstein TL, Parker TG, Butany JW, Goodman JM, Dawood F, Wen WH, et al. Favorable left ventricular remodeling following large myocardial infarction by exercise training. Effect on ventricular morphology and gene expression. J Clin Invest 1995; 96: 858-866.
-
(1995)
J Clin Invest
, vol.96
, pp. 858-866
-
-
Orenstein, T.L.1
Parker, T.G.2
Butany, J.W.3
Goodman, J.M.4
Dawood, F.5
Wen, W.H.6
-
31
-
-
0038701741
-
Transendocardial, autologous bone marrow cell transplantation for severe, chronic ischemic heart failure
-
Perin EC, Dohmann HF, Borojevic R, Silva SA, Sousa AL, Mesquita CT, et al. Transendocardial, autologous bone marrow cell transplantation for severe, chronic ischemic heart failure. Circulation 2003; 107: 2294-2302.
-
(2003)
Circulation
, vol.107
, pp. 2294-2302
-
-
Perin, E.C.1
Dohmann, H.F.2
Borojevic, R.3
Silva, S.A.4
Sousa, A.L.5
Mesquita, C.T.6
-
32
-
-
0037109052
-
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer
-
Takahashi H, Hirai Y, Migita M, Seino Y, Fukuda Y, Sakuraba H, et al. Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer. Proc Natl Acad Sci USA 2002; 99: 13777-13782.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 13777-13782
-
-
Takahashi, H.1
Hirai, Y.2
Migita, M.3
Seino, Y.4
Fukuda, Y.5
Sakuraba, H.6
|