-
1
-
-
0000889058
-
α-Galactosidase a deficiency: Fabry disease
-
In: editors. McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In : Scriver CR, Beaudet AL, Sly WS et al. editors. The Metabolic and Molecular Bases of Inherited Disease. New York : McGraw-Hill 2001. 3733 74.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. New York
, pp. 3733-74
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
Scriver, C.R.4
Beaudet, A.L.5
Sly, W.S.6
-
2
-
-
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. 750-60
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0037461097
-
Early detection of Fabry cardiomyopathy by tissue Doppler imaging
-
Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003 107 : 1978 84.
-
(2003)
Circulation
, vol.107
, pp. 1978-84
-
-
Pieroni, M.1
Chimenti, C.2
Ricci, R.3
Sale, P.4
Russo, M.A.5
Frustaci, A.6
-
4
-
-
0344430257
-
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium
-
Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003 24 : 2151 5.
-
(2003)
Eur Heart J
, vol.24
, pp. 2151-5
-
-
Moon, J.C.1
Sachdev, B.2
Elkington, A.G.3
McKenna, W.J.4
Mehta, A.5
Pennell, D.J.6
-
5
-
-
0343618421
-
New insights in cardiac structural changes in patients with Fabry's disease
-
Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D 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. 1101-8
-
-
Linhart, A.1
Palecek, T.2
Bultas, J.3
Ferguson, J.J.4
Hrudová, J.5
Karetová, D.6
-
6
-
-
0141765881
-
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease
-
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. Circulation 2003 108 : 1299 301.
-
(2003)
Circulation
, vol.108
, pp. 1299-301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
Sandstede, J.4
Turschner, O.5
Voelker, W.6
-
7
-
-
4344713083
-
Enzyme replacement therapy with agalsidase β improves cardiac involvement in Fabry's disease
-
Spinelli L, Pisani A, Sabbatini M, Petretta M, Andreucci MV, Procaccini D 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. 158-65
-
-
Spinelli, L.1
Pisani, A.2
Sabbatini, M.3
Petretta, M.4
Andreucci, M.V.5
Procaccini, D.6
-
8
-
-
0025727274
-
Exercise intolerance in patients with heart failure and preserved left ventricular systolic function: Failure of the Frank-Starling mechanism
-
Kitzman DW, Higginbotham MB, Cobb FR, Sheikh KH, Sullivan MJ. Exercise intolerance in patients with heart failure and preserved left ventricular systolic function: failure of the Frank-Starling mechanism. J Am Coll Cardiol 1991 17 : 1065 72.
-
(1991)
J Am Coll Cardiol
, vol.17
, pp. 1065-72
-
-
Kitzman, D.W.1
Higginbotham, M.B.2
Cobb, F.R.3
Sheikh, K.H.4
Sullivan, M.J.5
-
9
-
-
0025275866
-
Left ventricular hypertrophy and impaired diastolic filling in essential hypertension. Diastolic mechanisms for systolic dysfunction during exercise
-
Cuocolo A, Sax FL, Brush JE, Maron BJ, Bacharach SL, Bonow RO. Left ventricular hypertrophy and impaired diastolic filling in essential hypertension. Diastolic mechanisms for systolic dysfunction during exercise. Circulation 1990 81 : 978 86.
-
(1990)
Circulation
, vol.81
, pp. 978-86
-
-
Cuocolo, A.1
Sax, F.L.2
Brush, J.E.3
Maron, B.J.4
Bacharach, S.L.5
Bonow, R.O.6
-
10
-
-
0033574249
-
A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation. Modification of Diet in Renal Disease Study Group
-
Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 1999 130 : 461 70.
-
(1999)
Ann Intern Med
, vol.130
, pp. 461-70
-
-
Levey, A.S.1
Bosch, J.P.2
Lewis, J.B.3
Greene, T.4
Rogers, N.5
Roth, D.6
-
11
-
-
0034020315
-
Age- and gender-specific differences in left and right ventricular cardiac function and mass determined by cine magnetic resonance imaging
-
Sandstede J, Lipke C, Beer M, Hofmann S, Pabst T, Kenn W et al. Age- and gender-specific differences in left and right ventricular cardiac function and mass determined by cine magnetic resonance imaging. Eur Radiol 2000 10 : 438 42.
-
(2000)
Eur Radiol
, vol.10
, pp. 438-42
-
-
Sandstede, J.1
Lipke, C.2
Beer, M.3
Hofmann, S.4
Pabst, T.5
Kenn, W.6
-
12
-
-
0021349746
-
Accurate estimates of absolute left ventricular volumes from equilibrium radionuclide angiographic count data using a simple geometric attenuation correction
-
Starling MR, Dell'Italia LJ, Walsh RA, Little WC, Benedetto AR, Nusynowitz ML. Accurate estimates of absolute left ventricular volumes from equilibrium radionuclide angiographic count data using a simple geometric attenuation correction. J Am Coll Cardiol 1984 3 : 789 98.
-
(1984)
J Am Coll Cardiol
, vol.3
, pp. 789-98
-
-
Starling, M.R.1
Dell'Italia, L.J.2
Walsh, R.A.3
Little, W.C.4
Benedetto, A.R.5
Nusynowitz, M.L.6
-
13
-
-
33646680506
-
Cardiac and vascular hypertrophy in Fabry disease: Evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition
-
Barbey F, Brakch N, Linhart A, Rosenblatt-Velin N, Jeanrenaud X, Qanadli S et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 2006 26 : 839 44.
-
(2006)
Arterioscler Thromb Vasc Biol
, vol.26
, pp. 839-44
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
Rosenblatt-Velin, N.4
Jeanrenaud, X.5
Qanadli, S.6
-
14
-
-
0017709757
-
Pharmacologic and hemodynamic influences on the rate of isovolumic left ventricular relaxation in the normal conscious dog
-
Karliner JS, Lewinter M, Mahler F, Engler R, O'Rourke RA. Pharmacologic and hemodynamic influences on the rate of isovolumic left ventricular relaxation in the normal conscious dog. J Clin Invest 1977 60 : 511 21.
-
(1977)
J Clin Invest
, vol.60
, pp. 511-21
-
-
Karliner, J.S.1
Lewinter, M.2
Mahler, F.3
Engler, R.4
O'Rourke, R.A.5
-
15
-
-
0027287727
-
Pulmonary venous flow velocities recorded by transthoracic Doppler ultrasound: Relation to left ventricular diastolic pressures
-
Rossvoll O, Hatle LK. Pulmonary venous flow velocities recorded by transthoracic Doppler ultrasound: relation to left ventricular diastolic pressures. J Am Coll Cardiol 1993 21 : 1687 96.
-
(1993)
J Am Coll Cardiol
, vol.21
, pp. 1687-96
-
-
Rossvoll, O.1
Hatle, L.K.2
-
16
-
-
0027440560
-
Estimation of left ventricular filling pressures using two-dimensional and Doppler echocardiography in adult patients with cardiac disease. Additional value of analyzing left atrial size, left atrial ejection fraction and the difference in duration of pulmonary venous and mitral flow velocity at atrial contraction
-
Appleton CP, Galloway JM, Gonzalez MS, Gaballa M, Basnight MA. Estimation of left ventricular filling pressures using two-dimensional and Doppler echocardiography in adult patients with cardiac disease. Additional value of analyzing left atrial size, left atrial ejection fraction and the difference in duration of pulmonary venous and mitral flow velocity at atrial contraction. J Am Coll Cardiol 1993 22 : 1972 82.
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 1972-82
-
-
Appleton, C.P.1
Galloway, J.M.2
Gonzalez, M.S.3
Gaballa, M.4
Basnight, M.A.5
-
17
-
-
0031543101
-
Determination of left ventricular filling pressure by Doppler echocardiography in patients with coronary artery disease: Critical role of left ventricular systolic function
-
Yamamoto K, Nishimura RA, Chaliki HP, Appleton CP, Holmes DR, Redfield MM. Determination of left ventricular filling pressure by Doppler echocardiography in patients with coronary artery disease: critical role of left ventricular systolic function. J Am Coll Cardiol 1997 30 : 1819 26.
-
(1997)
J Am Coll Cardiol
, vol.30
, pp. 1819-26
-
-
Yamamoto, K.1
Nishimura, R.A.2
Chaliki, H.P.3
Appleton, C.P.4
Holmes, D.R.5
Redfield, M.M.6
-
18
-
-
0031019476
-
An index of early left ventricular filling that combined with pulsed Doppler peak e velocity may estimate capillary wedge pressure
-
Garcia MJ, Ares MA, Asher C, Rodriguez L, Vandervoort P, Thomas JD. An index of early left ventricular filling that combined with pulsed Doppler peak E velocity may estimate capillary wedge pressure. J Am Coll Cardiol 1997 29 : 448 54.
-
(1997)
J Am Coll Cardiol
, vol.29
, pp. 448-54
-
-
Garcia, M.J.1
Ares, M.A.2
Asher, C.3
Rodriguez, L.4
Vandervoort, P.5
Thomas, J.D.6
-
19
-
-
0030698732
-
Doppler tissue imaging: A noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures
-
Nagueh SF, Middleton KJ, Kopelen HA, Zoghbi WA, Quinones MA. Doppler tissue imaging: a noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures. J Am Coll Cardiol 1997 30 : 1527 33.
-
(1997)
J Am Coll Cardiol
, vol.30
, pp. 1527-33
-
-
Nagueh, S.F.1
Middleton, K.J.2
Kopelen, H.A.3
Zoghbi, W.A.4
Quinones, M.A.5
-
20
-
-
0034633812
-
Clinical utility of Doppler echocardiography and tissue Doppler imaging in the estimation of left ventricular filling pressures: A comparative simultaneous Doppler-catheterization study
-
Ommen SR, Nishimura RA, Appleton CP, Miller FA, Oh JK, Redfield MM et al. Clinical utility of Doppler echocardiography and tissue Doppler imaging in the estimation of left ventricular filling pressures: a comparative simultaneous Doppler-catheterization study. Circulation 2000 102 : 1788 94.
-
(2000)
Circulation
, vol.102
, pp. 1788-94
-
-
Ommen, S.R.1
Nishimura, R.A.2
Appleton, C.P.3
Miller, F.A.4
Oh, J.K.5
Redfield, M.M.6
-
21
-
-
0033864121
-
Evaluation of brain natriuretic peptide as marker of left ventricular dysfunction and hypertrophy in the population
-
Luchner A, Burnett JC, Jougasaki M, Hense HW, Heid IM, Muders F et al. Evaluation of brain natriuretic peptide as marker of left ventricular dysfunction and hypertrophy in the population. J Hypertens 2000 18 : 1121 8.
-
(2000)
J Hypertens
, vol.18
, pp. 1121-8
-
-
Luchner, A.1
Burnett, J.C.2
Jougasaki, M.3
Hense, H.W.4
Heid, I.M.5
Muders, F.6
-
22
-
-
0032435209
-
Exercise-induced abnormal blood pressure responses are related to subendocardial ischemia in hypertrophic cardiomyopathy
-
Yoshida N, Ikeda H, Wada T, Matsumoto A, Maki S, Muro A et al. Exercise-induced abnormal blood pressure responses are related to subendocardial ischemia in hypertrophic cardiomyopathy. J Am Coll Cardiol 1998 32 : 1938 42.
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 1938-42
-
-
Yoshida, N.1
Ikeda, H.2
Wada, T.3
Matsumoto, A.4
Maki, S.5
Muro, A.6
-
23
-
-
0037125414
-
Hemodynamic determinants of exercise-induced abnormal blood pressure response in hypertrophic cardiomyopathy
-
Ciampi Q, Betocchi S, Lombardi R, Manganelli F, Storto G, Losi MA et al. Hemodynamic determinants of exercise-induced abnormal blood pressure response in hypertrophic cardiomyopathy. J Am Coll Cardiol 2002 40 : 278 84.
-
(2002)
J Am Coll Cardiol
, vol.40
, pp. 278-84
-
-
Ciampi, Q.1
Betocchi, S.2
Lombardi, R.3
Manganelli, F.4
Storto, G.5
Losi, M.A.6
-
24
-
-
0019501633
-
Accuracy of diagnosis of coronary artery disease by radionuclide management of left ventricular function during rest and exercise
-
Jones RH, McEwan P, Newman GE, Port S, Rerych SK, Scholz PM et al. Accuracy of diagnosis of coronary artery disease by radionuclide management of left ventricular function during rest and exercise. Circulation 1981 64 : 586 601.
-
(1981)
Circulation
, vol.64
, pp. 586-601
-
-
Jones, R.H.1
McEwan, P.2
Newman, G.E.3
Port, S.4
Rerych, S.K.5
Scholz, P.M.6
-
25
-
-
0035668059
-
Ventricular interaction and external constraint account for decreased stroke work during volume loading in CHF
-
Moore TD, Frenneaux MP, Sas R, Atherton JJ, Morris-Thurgood JA, Smith ER et al. Ventricular interaction and external constraint account for decreased stroke work during volume loading in CHF. Am J Physiol 2001 281 : H2385 91.
-
(2001)
Am J Physiol
, vol.281
-
-
Moore, T.D.1
Frenneaux, M.P.2
Sas, R.3
Atherton, J.J.4
Morris-Thurgood, J.A.5
Smith, E.R.6
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