-
1
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, K.E. Kinzler, B. Vogelstein, McGraw-Hill New York
-
R.J. Desnick, Y.A. Ioannou, and C.M. Eng Alpha-galactosidase A deficiency: Fabry disease C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, K.E. Kinzler, B. Vogelstein, The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill New York 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
-
2
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
K.D. MacDermot, A. Holmes, and A.H. Miners Natural history of Fabry disease in affected males and obligate carrier females J Inherit Metab Dis 24 Suppl. 2 2001 13 14
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 13-14
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0037032275
-
Cardiac manifestations of Anderson-Fabry disease in heterozygous females
-
C. Kampmann, F. Baehner, C. Whybra, and et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females J Am Coll Cardiol 40 2002 1668 1674
-
(2002)
J Am Coll Cardiol
, vol.40
, pp. 1668-1674
-
-
Kampmann, C.1
Baehner, F.2
Whybra, C.3
-
4
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
S. Nakao, T. Takenaka, M. Maeda, and et al. 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
-
5
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late-onset hypertrophic cardiomyopathy
-
B. Sachdev, T. Takenaka, H. Teraguchi, P. Lee, W.J. McKenna, and P.M. Elliott 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
Lee, P.4
McKenna, W.J.5
Elliott, P.M.6
-
6
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
C. Chimenti, M. Pieroni, E. Morgante, and et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy Circulation 110 2004 1047 1053
-
(2004)
Circulation
, vol.110
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
-
7
-
-
43949098964
-
Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study
-
T. Takenaka, H. Teraguchi, A. Yoshida, and et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study J Cardiol 51 2008 50 59
-
(2008)
J Cardiol
, vol.51
, pp. 50-59
-
-
Takenaka, T.1
Teraguchi, H.2
Yoshida, A.3
-
8
-
-
44849091570
-
Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease
-
C. Chimenti, N. Hamdani, N.M. Boontje, and et al. Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease Am J Pathol 172 2008 1482 1490
-
(2008)
Am J Pathol
, vol.172
, pp. 1482-1490
-
-
Chimenti, C.1
Hamdani, N.2
Boontje, N.M.3
-
9
-
-
77956432843
-
A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy
-
M.N. Sheppard, P. Cane, R. Florio, and et al. A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy Cardiovasc Pathol 19 2010 293 301
-
(2010)
Cardiovasc Pathol
, vol.19
, pp. 293-301
-
-
Sheppard, M.N.1
Cane, P.2
Florio, R.3
-
10
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
J.M. Aerts, J.E. Groener, S. Kuiper, and et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proc Natl Acad Sci U S A 105 2008 2812 2817
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
-
11
-
-
73949158308
-
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease
-
N. Brakch, O. Dormond, S. Bekri, and et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease Eur Heart J 31 2010 67 76
-
(2010)
Eur Heart J
, vol.31
, pp. 67-76
-
-
Brakch, N.1
Dormond, O.2
Bekri, S.3
-
12
-
-
53749095321
-
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
-
J.S. Shen, X.L. Meng, D.F. Moore, and et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells Mol Genet Metab 95 2008 163 168
-
(2008)
Mol Genet Metab
, vol.95
, pp. 163-168
-
-
Shen, J.S.1
Meng, X.L.2
Moore, D.F.3
-
13
-
-
84860425284
-
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease
-
M. Namdar, C. Gebhard, R. Studiger, and et al. Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease PLoS One 7 2012 e36373
-
(2012)
PLoS One
, vol.7
, pp. e36373
-
-
Namdar, M.1
Gebhard, C.2
Studiger, R.3
-
14
-
-
83255165401
-
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
-
G.B. Biancini, C.S. Vanzin, D.B. Rodrigues, and et al. Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy Biochim Biophys Acta 2012 1822 226 232
-
(1822)
Biochim Biophys Acta
, vol.2012
, pp. 226-232
-
-
Biancini, G.B.1
Vanzin, C.S.2
Rodrigues, D.B.3
-
15
-
-
13444283308
-
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein e deficiency
-
P.F. Bodary, Y. Shen, F.B. Vargas, and et al. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency Circulation 111 2005 629 632
-
(2005)
Circulation
, vol.111
, pp. 629-632
-
-
Bodary, P.F.1
Shen, Y.2
Vargas, F.B.3
-
16
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
-
D.F. Moore, L.T. Scott, M.T. Gladwin, and et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy Circulation 104 2001 1506 1512
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
-
17
-
-
84903753254
-
Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease
-
L. Shu, A. Vivekanandan-Giri, S. Pennathur, and et al. Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease Kidney Int 86 2014 58 60
-
(2014)
Kidney Int
, vol.86
, pp. 58-60
-
-
Shu, L.1
Vivekanandan-Giri, A.2
Pennathur, S.3
-
18
-
-
0035811674
-
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose infusion therapy
-
A. Frustaci, C. Chimenti, R. Ricci, and et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose infusion therapy N Engl J Med 345 2001 25 32
-
(2001)
N Engl J Med
, vol.345
, pp. 25-32
-
-
Frustaci, A.1
Chimenti, C.2
Ricci, R.3
-
19
-
-
84864287005
-
Cardiac and skeletal myopathy in Fabry disease: A clinicopathologic correlative study
-
C. Chimenti, L. Padua, C. Pazzaglia, and et al. Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study Hum Pathol 43 2012 1444 1452
-
(2012)
Hum Pathol
, vol.43
, pp. 1444-1452
-
-
Chimenti, C.1
Padua, L.2
Pazzaglia, C.3
-
21
-
-
84890174675
-
Decreased CD1a(+), CD83(+) and factor XIIIa(+) dendritic cells in cervical lymph nodes and palatine tonsils of AIDS patients
-
R. Gondak, T. Mauad, L. Schultz, F. Soares, L.P. Kowalski, and P.A. Vargas Decreased CD1a(+), CD83(+) and factor XIIIa(+) dendritic cells in cervical lymph nodes and palatine tonsils of AIDS patients Histopathology 64 2014 234 241
-
(2014)
Histopathology
, vol.64
, pp. 234-241
-
-
Gondak, R.1
Mauad, T.2
Schultz, L.3
Soares, F.4
Kowalski, L.P.5
Vargas, P.A.6
-
22
-
-
84878939129
-
A comparison between manual and automated evaluations of tissue microarray patterns of protein expression
-
A.W. Alvarenga, C.M. Coutinho-Camillo, B.R. Rodrigues, and et al. A comparison between manual and automated evaluations of tissue microarray patterns of protein expression J Histochem Cytochem 61 2013 272 282
-
(2013)
J Histochem Cytochem
, vol.61
, pp. 272-282
-
-
Alvarenga, A.W.1
Coutinho-Camillo, C.M.2
Rodrigues, B.R.3
-
23
-
-
10744219959
-
Senescence and death of primitive cells and myocytes lead to premature cardiac aging and heart failure
-
C. Chimenti, J. Kajstura, D. Torella, and et al. Senescence and death of primitive cells and myocytes lead to premature cardiac aging and heart failure Circ Res 93 2003 604 613
-
(2003)
Circ Res
, vol.93
, pp. 604-613
-
-
Chimenti, C.1
Kajstura, J.2
Torella, D.3
-
24
-
-
70350492023
-
Angina in Fabry disease reflects coronary small vessel disease
-
C. Chimenti, E. Morgante, G. Tanzilli, and et al. Angina in Fabry disease reflects coronary small vessel disease Circ Heart Fail 1 2008 161 169
-
(2008)
Circ Heart Fail
, vol.1
, pp. 161-169
-
-
Chimenti, C.1
Morgante, E.2
Tanzilli, G.3
-
25
-
-
0037461097
-
Early detection of Fabry cardiomyopathy by tissue Doppler imaging
-
M. Pieroni, C. Chimenti, R. Ricci, and et al. 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
-
26
-
-
84856009441
-
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease
-
J. Zamorano, V. Serra, L. Pérez de Isla, and et al. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease Eur J Echocardiogr 12 2011 671 677
-
(2011)
Eur J Echocardiogr
, vol.12
, pp. 671-677
-
-
Zamorano, J.1
Serra, V.2
Pérez De Isla, L.3
-
27
-
-
0035059318
-
The role of nitric oxide in the failing heart
-
W.J. Paulus The role of nitric oxide in the failing heart Heart Fail Rev 6 2001 105 118
-
(2001)
Heart Fail Rev
, vol.6
, pp. 105-118
-
-
Paulus, W.J.1
-
28
-
-
21744441052
-
Peroxynitrite-induced alpha-actinin nitration and contractile alterations in isolated human myocardial cells
-
A. Borbély, A. Tóth, I. Edes, and et al. Peroxynitrite-induced alpha-actinin nitration and contractile alterations in isolated human myocardial cells Cardiovasc Res 67 2005 225 233
-
(2005)
Cardiovasc Res
, vol.67
, pp. 225-233
-
-
Borbély, A.1
Tóth, A.2
Edes, I.3
-
29
-
-
79952041217
-
Redox signaling in cardiac myocytes
-
C.X. Santos, N. Anilkumar, M. Zhang, A.C. Brewer, and A.M. Shah Redox signaling in cardiac myocytes Free Radic Biol Med 50 2011 777 793
-
(2011)
Free Radic Biol Med
, vol.50
, pp. 777-793
-
-
Santos, C.X.1
Anilkumar, N.2
Zhang, M.3
Brewer, A.C.4
Shah, A.M.5
-
30
-
-
84919924647
-
8-hydroxy-2′-deoxyguanosine and cardiovascular disease: A systematic review
-
L.J. Kroese, and P.G. Scheffer 8-hydroxy-2′-deoxyguanosine and cardiovascular disease: a systematic review Curr Atheroscler Rep 16 2014 452
-
(2014)
Curr Atheroscler Rep
, vol.16
, pp. 452
-
-
Kroese, L.J.1
Scheffer, P.G.2
-
31
-
-
33746731657
-
Elevated levels of oxidative DNA damage in serum and myocardium of patients with heart failure
-
Y. Kono, K. Nakamura, H. Kimura, and et al. Elevated levels of oxidative DNA damage in serum and myocardium of patients with heart failure Circ J 70 2006 1001 1005
-
(2006)
Circ J
, vol.70
, pp. 1001-1005
-
-
Kono, Y.1
Nakamura, K.2
Kimura, H.3
-
32
-
-
0035800882
-
Oxidative stress-mediated cardiac cell death is a major determinant of ventricular dysfunction and failure in dog dilated cardiomyopathy
-
D. Cesselli, I. Jakoniuk, L. Barlucchi, and et al. Oxidative stress-mediated cardiac cell death is a major determinant of ventricular dysfunction and failure in dog dilated cardiomyopathy Circ Res 89 2001 279 286
-
(2001)
Circ Res
, vol.89
, pp. 279-286
-
-
Cesselli, D.1
Jakoniuk, I.2
Barlucchi, L.3
-
33
-
-
82455162407
-
Higher apoptotic state in Fabry disease peripheral blood mononuclear cells: Effect of globotriaosylceramide
-
P.N. De Francesco, J.M. Mucci, R. Ceci, C.A. Fossati, and P.A. Rozenfeld Higher apoptotic state in Fabry disease peripheral blood mononuclear cells: effect of globotriaosylceramide Mol Genet Metab 104 2011 319 324
-
(2011)
Mol Genet Metab
, vol.104
, pp. 319-324
-
-
De Francesco, P.N.1
Mucci, J.M.2
Ceci, R.3
Fossati, C.A.4
Rozenfeld, P.A.5
-
34
-
-
0034894990
-
Multiple role of reactive oxygen species in the arterial wall
-
C. Napoli, F. de Nigris, and W. Palinski Multiple role of reactive oxygen species in the arterial wall J Cell Biochem 82 2001 674 682
-
(2001)
J Cell Biochem
, vol.82
, pp. 674-682
-
-
Napoli, C.1
De Nigris, F.2
Palinski, W.3
-
35
-
-
34848836985
-
Cellular and tissue localization of globotriaosylceramide in Fabry disease
-
H. Askari, C.R. Kaneski, C. Semino-Mora, and et al. Cellular and tissue localization of globotriaosylceramide in Fabry disease Virchows Arch 451 2007 823 834
-
(2007)
Virchows Arch
, vol.451
, pp. 823-834
-
-
Askari, H.1
Kaneski, C.R.2
Semino-Mora, C.3
-
36
-
-
0029968286
-
Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late infantile neuronal ceroid lipofuscinosis
-
A.M. Das, and A. Kohlschütter Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late infantile neuronal ceroid lipofuscinosis J Inherit Metab Dis 19 1996 130 132
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 130-132
-
-
Das, A.M.1
Kohlschütter, A.2
-
37
-
-
0024239923
-
Lysosphingolipids and mitochondrial function. II. Deleterious effects of sphingosylphosphorylcholine
-
P.M. Strasberg, and J.W. Callahan Lysosphingolipids and mitochondrial function. II. Deleterious effects of sphingosylphosphorylcholine Biochem Cell Biol 66 1988 1322 1332
-
(1988)
Biochem Cell Biol
, vol.66
, pp. 1322-1332
-
-
Strasberg, P.M.1
Callahan, J.W.2
-
38
-
-
1942503219
-
Fabry disease: Reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts
-
T. Lucke, W. Höppner, E. Schmidt, S. Illsinger, and A.M. Das Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts Mol Genet Metab 82 2004 93 97
-
(2004)
Mol Genet Metab
, vol.82
, pp. 93-97
-
-
Lucke, T.1
Höppner, W.2
Schmidt, E.3
Illsinger, S.4
Das, A.M.5
-
39
-
-
73349104133
-
Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking
-
A.M. Das, and H.Y. Naim Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking Adv Clin Chem 49 2009 57 71
-
(2009)
Adv Clin Chem
, vol.49
, pp. 57-71
-
-
Das, A.M.1
Naim, H.Y.2
-
40
-
-
72949089514
-
The peroxynitrite evoked contractile depression can be partially reversed by antioxidants in human cardiomyocytes
-
Z. Hertelendi, A. Tóth, A. Borbély, and et al. The peroxynitrite evoked contractile depression can be partially reversed by antioxidants in human cardiomyocytes J Cell Mol Med 13 2009 2200 2209
-
(2009)
J Cell Mol Med
, vol.13
, pp. 2200-2209
-
-
Hertelendi, Z.1
Tóth, A.2
Borbély, A.3
-
41
-
-
4744344117
-
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study
-
D.F. Moore, F. Ye, M.L. Brennan, and et al. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study J Magn Reson Imaging 20 2004 674 683
-
(2004)
J Magn Reson Imaging
, vol.20
, pp. 674-683
-
-
Moore, D.F.1
Ye, F.2
Brennan, M.L.3
-
42
-
-
84858113250
-
Nitric oxide modulation as a therapeutic strategy in heart failure
-
A.L. Taylor Nitric oxide modulation as a therapeutic strategy in heart failure Heart Fail Clin 8 2012 255 272
-
(2012)
Heart Fail Clin
, vol.8
, pp. 255-272
-
-
Taylor, A.L.1
|