-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
-
2
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
3
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
-
4
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105:151-6.
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
5
-
-
0001454252
-
Concealed myocardial storage disease (Fabry's disease): Pitfalls in the diagnosis of hypertrophic nonobstructive cardiomyopathy
-
Kuhn H, Kohler E, Hort W, et al. Concealed myocardial storage disease (Fabry's disease): pitfalls in the diagnosis of hypertrophic nonobstructive cardiomyopathy. Circulation 1982;66(Suppl 2):117.
-
(1982)
Circulation
, vol.66
, Issue.SUPPL. 2
, pp. 117
-
-
Kuhn, H.1
Kohler, E.2
Hort, W.3
-
6
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
-
7
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-11.
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
-
8
-
-
0035149822
-
Cardiac manifestations in Fabry disease
-
discussion 65
-
Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24(Suppl 2):75-83; discussion 65.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 2
, pp. 75-83
-
-
Linhart, A.1
Lubanda, J.C.2
Palecek, T.3
-
9
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M, Bradova V, Smid F, et al. 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 1990;417:449-55.
-
(1990)
Virchows Arch A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
-
10
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-9.
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
-
11
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomised controlled trial
-
Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomised controlled trial. JAMA 2001;285:2743-9.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
12
-
-
12944265457
-
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R, Murray GJ, Treco D, et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 2000;97:365-70.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
13
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, 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
-
14
-
-
4344713083
-
Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease
-
Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease. Clin Genet 2004;66:158-65.
-
(2004)
Clin Genet
, vol.66
, pp. 158-165
-
-
Spinelli, L.1
Pisani, A.2
Sabbatini, M.3
-
15
-
-
0022588019
-
Echocardiographic assessment of left ventricular hypertrophy: Comparison to necropsy findings
-
Devereux RB, Alonso DR, Lutas EM, et al. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 1986;57: 450-8.
-
(1986)
Am J Cardiol
, vol.57
, pp. 450-458
-
-
Devereux, R.B.1
Alonso, D.R.2
Lutas, E.M.3
-
16
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds, Seventh edition. New York: McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. Seventh edition. Vol 2. New York: McGraw-Hill, 1995:2741-84.
-
(1995)
The metabolic and molecular basis of inherited disease
, vol.2
, pp. 2741-2784
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
17
-
-
0026092229
-
Relation of left ventricular mass and geometry to morbidity and mortality in uncomplicated essential hypertension
-
Koren MJ, Devereux RB, Casale PN, et al. Relation of left ventricular mass and geometry to morbidity and mortality in uncomplicated essential hypertension. Ann Intern Med 1991;114:345-52.
-
(1991)
Ann Intern Med
, vol.114
, pp. 345-352
-
-
Koren, M.J.1
Devereux, R.B.2
Casale, P.N.3
|