-
1
-
-
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
-
2
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
Scriver CH, Beaudet AL, Sly WS, Valle D, editors. New York, NY: McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CH, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 2001:3733-74.
-
(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
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA III, 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 H.A. III3
-
4
-
-
0014533509
-
The heart in Fabry's disease. A histochemical and electron microscopic study
-
Ferrans VJ, Hibbs RG, Burda CD. The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 1969;24: 95-110.
-
(1969)
Am J Cardiol
, vol.24
, pp. 95-110
-
-
Ferrans, V.J.1
Hibbs, R.G.2
Burda, C.D.3
-
5
-
-
0343618421
-
New insights in cardiac structural changes in patients with Fabry's disease
-
Linhart A, Palecek T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000;139:1101-8.
-
(2000)
Am Heart J
, vol.139
, pp. 1101-1108
-
-
Linhart, A.1
Palecek, T.2
Bultas, J.3
-
6
-
-
0017132042
-
Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies
-
Desnick RJ, Blieden LC, Sharp HL, et al. Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 1976;54:818-25.
-
(1976)
Circulation
, vol.54
, pp. 818-825
-
-
Desnick, R.J.1
Blieden, L.C.2
Sharp, H.L.3
-
7
-
-
0022578120
-
Echocardiographic abnormalities and disease severity in Fabry's disease
-
Goldman ME, Cantor R, Schwartz MF, et al. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986;7:1157-61.
-
(1986)
J Am Coll Cardiol
, vol.7
, pp. 1157-1161
-
-
Goldman, M.E.1
Cantor, R.2
Schwartz, M.F.3
-
8
-
-
0028363692
-
Electrophysiologic findings in Fabry's disease with a short PR interval
-
Pochis WT, Litzow JT, King BG, et al. Electrophysiologic findings in Fabry's disease with a short PR interval. Am J Cardiol 1994;74:203-4.
-
(1994)
Am J Cardiol
, vol.74
, pp. 203-204
-
-
Pochis, W.T.1
Litzow, J.T.2
King, B.G.3
-
9
-
-
0025713062
-
Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy
-
Elleder M, Dorazilova V, Bradova V, et al. Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy. Cas Lek Cesk 1990;129:369-72.
-
(1990)
Cas Lek Cesk
, vol.129
, pp. 369-372
-
-
Elleder, M.1
Dorazilova, V.2
Bradova, V.3
-
10
-
-
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
-
11
-
-
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;38:769-807.
-
(2001)
J Med Genet
, vol.38
, pp. 769-807
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
12
-
-
0034078975
-
Normal values of M-mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe
-
Kampmann C, Wiethoff CM, Wenzel A, et al. Normal values of M-mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 2000;83:667-72.
-
(2000)
Heart
, vol.83
, pp. 667-672
-
-
Kampmann, C.1
Wiethoff, C.M.2
Wenzel, A.3
-
13
-
-
0026777091
-
Left ventricular hypertrophy as a measure of preclinical hypertensive disease
-
Devereux RB, Koren MJ, de Simone G, et al. Left ventricular hypertrophy as a measure of preclinical hypertensive disease. Am J Hypertens 1992;5:175S-81S.
-
(1992)
Am J Hypertens
, vol.5
-
-
Devereux, R.B.1
Koren, M.J.2
De Simone, G.3
-
15
-
-
0018358493
-
A mathematical model of the dynamic geometry of the intact left ventricle and its application to clinical data
-
Dumesnil JG, Shourci M, Laurenceau JL, et al. A mathematical model of the dynamic geometry of the intact left ventricle and its application to clinical data. Circulation 1979;59:1024-34.
-
(1979)
Circulation
, vol.59
, pp. 1024-1034
-
-
Dumesnil, J.G.1
Shourci, M.2
Laurenceau, J.L.3
-
16
-
-
0005224889
-
Kardiale Ultraschalldiagnostik
-
Berlin: Blackwell Wissenschaft
-
Schmailzl KJG. Kardiale Ultraschalldiagnostik. Handbuch und Atlas, 1st Ed. Berlin: Blackwell Wissenschaft, 1994.
-
(1994)
Handbuch und Atlas, 1st Ed.
-
-
Schmailzl, K.J.G.1
-
19
-
-
0032970487
-
Long axis function in disease
-
Henein MY, Gibson DG. Long axis function in disease. Heart 1999;81:229-31.
-
(1999)
Heart
, vol.81
, pp. 229-231
-
-
Henein, M.Y.1
Gibson, D.G.2
-
20
-
-
0028795174
-
Suppression of left ventricular early diastolic filling by long axis asynchrony
-
Henein MY, Gibson DG. Suppression of left ventricular early diastolic filling by long axis asynchrony. Br Heart J 1995;73:151-7.
-
(1995)
Br Heart J
, vol.73
, pp. 151-157
-
-
Henein, M.Y.1
Gibson, D.G.2
-
21
-
-
0016074462
-
Comparison of isovolumetric and ejection phase indices of myocardial performance in man
-
Peterson KL, Sklovan D, Ludbrook P, et al. Comparison of isovolumetric and ejection phase indices of myocardial performance in man. Circulation 1974;49:1088-96.
-
(1974)
Circulation
, vol.49
, pp. 1088-1096
-
-
Peterson, K.L.1
Sklovan, D.2
Ludbrook, P.3
-
22
-
-
0032491161
-
Restrictive cardiornyopathy secondary to Fabry's disease
-
Cantor WJ, Butany J, Iwanochko M, et al. Restrictive cardiornyopathy secondary to Fabry's disease. Circulation 1998;98:1457-9.
-
(1998)
Circulation
, vol.98
, pp. 1457-1459
-
-
Cantor, W.J.1
Butany, J.2
Iwanochko, M.3
-
23
-
-
0028893343
-
Inherited restrictive cardiomyopathy in a 74-year-old woman: A case of Fabry's disease
-
Hillsley RE, Hernandez E, Steenbergen C, et al. Inherited restrictive cardiomyopathy in a 74-year-old woman: A case of Fabry's disease. Am Heart J 1995;129:199-202.
-
(1995)
Am Heart J
, vol.129
, pp. 199-202
-
-
Hillsley, R.E.1
Hernandez, E.2
Steenbergen, C.3
-
24
-
-
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
-
25
-
-
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
-
26
-
-
0022654934
-
Cardiovascular manifestations in Fabry's disease
-
Sakuraba H, Yanagawa Y, Igarashi T, et al. Cardiovascular manifestations in Fabry's disease. Clin Gener 1986;29:276-83.
-
(1986)
Clin Gener
, vol.29
, pp. 276-283
-
-
Sakuraba, H.1
Yanagawa, Y.2
Igarashi, T.3
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