-
1
-
-
0000889058
-
α-Galactosidase A defciency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds 8th ed. New York, NY: McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A defciency: Fabry disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001;3:3733-3774.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.3
, pp. 3733-33774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
73349136303
-
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919G>A (IVS4+919G>A)
-
Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh H Y, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919G>A (IVS4+919G>A). Hum Mutat. 2009;30:1397-1405.
-
(2009)
Hum Mutat.
, vol.30
, pp. 1397-11405
-
-
Hwu, W.L.1
Chien, Y.H.2
Lee, N.C.3
Chiang, S.C.4
Dobrovolny, R.5
Huang, A.C.6
Yeh, H.Y.7
Chao, M.C.8
Lin, S.J.9
Kitagawa, T.10
Desnick, R.J.11
Hsu, L.W.12
-
4
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. 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
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
Ponzone, A.7
Desnick, R.J.8
-
5
-
-
33644830752
-
Pathological fndings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
-
Schiffmann R, Rapkiewicz A, Abu-Asab M, Ries M, Askari H, Tsokos M, Quezado M. Pathological fndings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch. 2006;448:337-343.
-
(2006)
Virchows Arch.
, vol.448
, pp. 337-3343
-
-
Schiffmann, R.1
Rapkiewicz, A.2
Abu-Asab, M.3
Ries, M.4
Askari, H.5
Tsokos, M.6
Quezado, M.7
-
6
-
-
33646691525
-
Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease
-
Barbey F, Brakch N, Linhart A, Jeanrenaud X, Palecek T, Bultas J, Burnier M, Hayoz D. Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease. Acta Paediatr Suppl. 2006;95:63-68.
-
(2006)
Acta Paediatr Suppl.
, vol.95
, pp. 63-68
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
Jeanrenaud, X.4
Palecek, T.5
Bultas, J.6
Burnier, M.7
Hayoz, D.8
-
7
-
-
1642455933
-
Sequelae of storage in Fabry disease: Pathology and comparison with other lysosomal storage diseases
-
Elleder M. Sequelae of storage in Fabry disease: pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl. 2003;92:46-53.
-
(2003)
Acta Paediatr Suppl.
, vol.92
, pp. 46-53
-
-
Elleder, M.1
-
8
-
-
13544271094
-
Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma
-
Blanco J, Herrero J, Arias LF, Garcia-Miralles N, Gamez C, Barrientos A. Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma. Pathol Res Pract. 2005;200:857-860.
-
(2005)
Pathol Res Pract.
, vol.200
, pp. 857-8860
-
-
Blanco, J.1
Herrero, J.2
Arias, L.F.3
Garcia-Miralles, N.4
Gamez, C.5
Barrientos, A.6
-
9
-
-
7444265245
-
A novel α-galactosidase a mutant (M42L) identifed in a renal variant of Fabry disease
-
Rosenthal D, Lien YH, Lager D, Lai LW, Shang S, Leung N, Fervenza FC. A novel α-galactosidase a mutant (M42L) identifed in a renal variant of Fabry disease. Am J Kidney Dis. 2004;44:e85-e89.
-
(2004)
Am J Kidney Dis.
, vol.44
-
-
Rosenthal, D.1
Lien, Y.H.2
Lager, D.3
Lai, L.W.4
Shang, S.5
Leung, N.6
Fervenza, F.C.7
-
10
-
-
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, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H. 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. 288-2293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
Tahara, M.6
Yoshida, A.7
Kuriyama, M.8
Hayashibe, H.9
Sakuraba, H.10
-
11
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confned to the myocardium
-
von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confned to the myocardium. N Engl J Med. 1991;324:395-399.
-
(1991)
N Engl J Med.
, vol.324
, pp. 395-3399
-
-
Von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
Erdmann, E.4
Hubner, G.5
Olsen, E.G.6
Christomanou, H.7
Kandolf, R.8
Bishop, D.F.9
Desnick, R.J.10
-
12
-
-
0035811624
-
Safety and effcacy of recombinant human α-galactosidase A: Replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and effcacy of recombinant human α-galactosidase A: replacement therapy in Fabry's disease. N Engl J Med. 2001;345:9-16.
-
(2001)
N Engl J Med.
, vol.3459
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
13
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743-2749.
-
(2001)
JAMA.
, vol.285
, pp. 2743-22749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
14
-
-
38749130497
-
Effects of enzyme replacement therapy on the cardiomyopa-thy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
-
Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB. Effects of enzyme replacement therapy on the cardiomyopa-thy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008;94:153-158.
-
(2008)
Heart.
, vol.94
, pp. 153-1158
-
-
Hughes, D.A.1
Elliott, P.M.2
Shah, J.3
Zuckerman, J.4
Coghlan, G.5
Brookes, J.6
Mehta, A.B.7
-
15
-
-
39549116083
-
Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or βat a dose of 0.2 mg/kg
-
Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, Aerts JM, Hirth A, Hollak CE. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or βat a dose of 0.2 mg/kg. PLoS One. 2007;2:e598.
-
(2007)
PLoS One.
, vol.2
-
-
Vedder, A.C.1
Linthorst, G.E.2
Houge, G.3
Groener, J.E.4
Ormel, E.E.5
Bouma, B.J.6
Aerts, J.M.7
Hirth, A.8
Hollak, C.E.9
-
16
-
-
33645528253
-
Clinical beneft of enzyme replacement therapy in Fabry disease
-
Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical beneft of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69:1216-1221.
-
(2006)
Kidney Int.
, vol.69
, pp. 1216-11221
-
-
Breunig, F.1
Weidemann, F.2
Strotmann, J.3
Knoll, A.4
Wanner, C.5
-
17
-
-
33846908304
-
Agalsidase-β therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-β therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146:77-86.
-
(2007)
Ann Intern Med.
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
Wilcox, W.R.4
Whitley, C.B.5
McDonald, M.6
Finkel, R.7
Packman, S.8
Bichet, D.G.9
Warnock, D.G.10
Desnick, R.J.11
-
18
-
-
72149112208
-
Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: A 12-to 36-month, retrospective, blinded echocardio-graphic pooled analysis
-
Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12-to 36-month, retrospective, blinded echocardio-graphic pooled analysis. Clin Ther. 2009;31:1966-1976.
-
(2009)
Clin Ther.
, vol.31
, pp. 1966-11976
-
-
Kampmann, C.1
Linhart, A.2
Devereux, R.B.3
Schiffmann, R.4
-
19
-
-
73749088671
-
Vasculopathy in patients with Fabry disease: Current controversies and research directions
-
Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab. 2010;99:99-108.
-
(2010)
Mol Genet Metab.
, vol.99
, pp. 99-99108
-
-
Rombach, S.M.1
Twickler, T.B.2
Aerts, J.M.3
Linthorst, G.E.4
Wijburg, F.A.5
Hollak, C.E.6
-
21
-
-
0033950217
-
Profle of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, McCarron R, Schiffmann R. Profle of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000;47:229-233.
-
(2000)
Ann Neurol.
, vol.47
, pp. 229-2233
-
-
Degraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
McCarron, R.7
Schiffmann, R.8
-
22
-
-
4744344117
-
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study
-
Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging. 2004;20:674-683.
-
(2004)
J Magn Reson Imaging.
, vol.20
, pp. 674-6683
-
-
Moore, D.F.1
Ye, F.2
Brennan, M.L.3
Gupta, S.4
Barshop, B.A.5
Steiner, R.D.6
Rhead, W.J.7
Brady, R.O.8
Hazen, S.L.9
Schiffmann, R.10
-
23
-
-
0034852918
-
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
-
Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP. Non-invasive evaluation of arterial involvement in patients affected with Fabry disease. J Med Genet. 2001;38:629-631.
-
(2001)
J Med Genet.
, vol.38
, pp. 629-6631
-
-
Boutouyrie, P.1
Laurent, S.2
Laloux, B.3
Lidove, O.4
Grunfeld, J.P.5
Germain, D.P.6
-
24
-
-
33748712030
-
Structural and functional changes in peripheral vasculature of Fabry patients
-
Kalliokoski RJ, Kalliokoski KK, Penttinen M, Kantola I, Leino A, Viikari JS, Simell O, Nuutila P, Raitakari OT. Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis. 2006;29:660-666.
-
(2006)
J Inherit Metab Dis.
, vol.29
, pp. 660-6666
-
-
Kalliokoski, R.J.1
Kalliokoski, K.K.2
Penttinen, M.3
Kantola, I.4
Leino, A.5
Viikari, J.S.6
Simell, O.7
Nuutila, P.8
Raitakari, O.T.9
-
25
-
-
84856894989
-
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease
-
Collin C, Briet M, Tran TC, Beaussier H, Benistan K, Bensalah M, Mousseaux E, Froissart M, Bozec E, Laurent S, Boutouyrie P, Germain DP. Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease. Eur J Cardiovasc Prev Rehabil. 2012;19:43-54.
-
(2012)
Eur J Cardiovasc Prev Rehabil.
, vol.19
, pp. 43-54
-
-
Collin, C.1
Briet, M.2
Tran, T.C.3
Beaussier, H.4
Benistan, K.5
Bensalah, M.6
Mousseaux, E.7
Froissart, M.8
Bozec, E.9
Laurent, S.10
Boutouyrie, P.11
Germain, D.P.12
-
26
-
-
44449155477
-
Skin autofuorescence: A tool to identify type 2 diabetic patients at risk for developing microvascular complications
-
Gerrits EG, Lutgers HL, Kleefstra N, Graaff R, Groenier KH, Smit AJ, Gans RO, Bilo HJ. Skin autofuorescence: a tool to identify type 2 diabetic patients at risk for developing microvascular complications. Diabetes Care. 2008;31:517-521.
-
(2008)
Diabetes Care.
, vol.31
, pp. 517-5521
-
-
Gerrits, E.G.1
Lutgers, H.L.2
Kleefstra, N.3
Graaff, R.4
Groenier, K.H.5
Smit, A.J.6
Gans, R.O.7
Bilo, H.J.8
-
27
-
-
23744439422
-
Accumulation of advanced glycation end products, measured as skin autofuorescence, in renal disease
-
Hartog JW, de Vries AP, Lutgers HL, Meerwaldt R, Huisman RM, van Son WJ, de Jong PE, Smit AJ. Accumulation of advanced glycation end products, measured as skin autofuorescence, in renal disease. Ann N Y Acad Sci. 2005;1043:299-307.
-
(2005)
Ann N y Acad Sci.
, vol.1043
, pp. 299-2307
-
-
Hartog, J.W.1
De Vries, A.P.2
Lutgers, H.L.3
Meerwaldt, R.4
Huisman, R.M.5
Van Son, W.J.6
De Jong, P.E.7
Smit, A.J.8
-
28
-
-
78650653535
-
Skin autofuorescence is associated with renal function and cardiovascular diseases in pre-dialysis chronic kidney disease patients
-
Tanaka K, Tani Y, Asai J, Nemoto F, Kusano Y, Suzuki H, Hayashi Y, Asahi K, Katoh T, Miyata T, Watanabe T. Skin autofuorescence is associated with renal function and cardiovascular diseases in pre-dialysis chronic kidney disease patients. Nephrol Dial Transplant. 2011;26:214-220.
-
(2011)
Nephrol Dial Transplant.
, vol.26
, pp. 214-2220
-
-
Tanaka, K.1
Tani, Y.2
Asai, J.3
Nemoto, F.4
Kusano, Y.5
Suzuki, H.6
Hayashi, Y.7
Asahi, K.8
Katoh, T.9
Miyata, T.10
Watanabe, T.11
-
29
-
-
77955454402
-
Carotid artery intima media thickness associates with skin autofuoresence in non-diabetic subjects without clinically manifest cardiovascular disease
-
Lutgers HL, Graaff R, de VR, Smit AJ, Dullaart RP. Carotid artery intima media thickness associates with skin autofuoresence in non-diabetic subjects without clinically manifest cardiovascular disease. Eur J Clin Invest. 2010;40:812-817.
-
(2010)
Eur J Clin Invest.
, vol.40
, pp. 812-8817
-
-
Lutgers, H.L.1
Graaff, R.2
De Vr Smit, A.J.3
Dullaart, R.P.4
-
30
-
-
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, Steinmann B, Burnier M, Palecek T, Bultas J, Hayoz D. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol. 2006;26:839-844.
-
(2006)
Arterioscler Thromb Vasc Biol.
, vol.26
, pp. 839-8844
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
Rosenblatt-Velin, N.4
Jeanrenaud, X.5
Qanadli, S.6
Steinmann, B.7
Burnier, M.8
Palecek, T.9
Bultas, J.10
Hayoz, D.11
-
31
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van RC, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812-2817.
-
(2008)
Proc Natl Acad Sci U S A.
, vol.105
, pp. 2812-22817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
Donker-Koopman, W.E.4
Strijland, A.5
Ottenhoff, R.6
Van Rc Mirzaian, M.7
Wijburg, F.A.8
Linthorst, G.E.9
Vedder, A.C.10
Rombach, S.M.11
Cox-Brinkman, J.12
Somerharju, P.13
Boot, R.G.14
Hollak, C.E.15
Brady, R.O.16
Poorthuis, B.J.17
-
32
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
-
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta. 2010;1802:741-748.
-
(2010)
Biochim Biophys Acta.
, vol.1802
, pp. 741-748
-
-
Rombach, S.M.1
Dekker, N.2
Bouwman, M.G.3
Linthorst, G.E.4
Zwinderman, A.H.5
Wijburg, F.A.6
Kuiper, S.7
Vd Bergh Weerman, M.A.8
Groener, J.E.9
Poorthuis, B.J.10
Hollak, C.E.11
Aerts, J.M.12
-
33
-
-
33747120659
-
Using standardized serum creatinine values in the modifcation of diet in renal disease study equation for estimating glo-merular fltration rate
-
Levey AS, Coresh J, Greene T, Stevens LA, Zhang YL, Hendriksen S, Kusek JW, Van LF. Using standardized serum creatinine values in the modifcation of diet in renal disease study equation for estimating glo-merular fltration rate. Ann Intern Med. 2006;145:247-254.
-
(2006)
Ann Intern Med.
, vol.145
, pp. 247-2254
-
-
Levey, A.S.1
Coresh, J.2
Greene, T.3
Stevens, L.A.4
Zhang, Y.L.5
Hendriksen, S.6
Kusek, J.W.7
Van, L.F.8
-
34
-
-
0026777091
-
Left ventricular mass as a measure of preclinical hypertensive disease
-
Devereux RB, Koren MJ, de Simone G, Roman MJ, Laragh JH. Left ventricular mass as a measure of preclinical hypertensive disease. Am J Hypertens. 1992;5:175S-181S.
-
(1992)
Am J Hypertens.
, vol.5
-
-
Devereux, R.B.1
Koren, M.J.2
De Simone, G.3
Roman, M.J.4
Laragh, J.H.5
-
35
-
-
0037116573
-
Guidelines for the ultrasound assessment of endothelial-dependent fow-mediated vasodilation of the brachial artery: A report of the International Brachial Artery Reactivity Task Force
-
Corretti MC, Anderson TJ, Benjamin EJ, Celermajer D, Charbonneau F, Creager MA, Deanfeld J, Drexler H, Gerhard-Herman M, Herrington D, Vallance P, Vita J, Vogel R. Guidelines for the ultrasound assessment of endothelial-dependent fow-mediated vasodilation of the brachial artery: a report of the International Brachial Artery Reactivity Task Force. J Am Coll Cardiol. 2002;39:257-265.
-
(2002)
J Am Coll Cardiol.
, vol.39
, pp. 257-2265
-
-
Corretti, M.C.1
Anderson, T.J.2
Benjamin, E.J.3
Celermajer, D.4
Charbonneau, F.5
Creager, M.A.6
Deanfeld, J.7
Drexler, H.8
Gerhard-Herman, M.9
Herrington, D.10
Vallance, P.11
Vita, J.12
Vogel, R.13
-
36
-
-
4143113592
-
Simple non-invasive assessment of advanced glycation endproduct accumulation
-
Meerwaldt R, Graaff R, Oomen PH, Links TP, Jager JJ, Alderson NL, Thorpe SR, Baynes JW, Gans RO, Smit AJ. Simple non-invasive assessment of advanced glycation endproduct accumulation. Diabetologia. 2004;47:1324-1330.
-
(2004)
Diabetologia.
, vol.47
, pp. 1324-1330
-
-
Meerwaldt, R.1
Graaff, R.2
Oomen, P.H.3
Links, T.P.4
Jager, J.J.5
Alderson, N.L.6
Thorpe, S.R.7
Baynes, J.W.8
Gans, R.O.9
Smit, A.J.10
-
37
-
-
27744479349
-
Noninvasive evaluation of endothelial function in patients with Anderson-Fabry disease
-
Puccio D, Coppola G, Corrado E, Muratori I, Pistone G, Buongiorno MR, Arico M, Novo S. Noninvasive evaluation of endothelial function in patients with Anderson-Fabry disease. Int Angiol. 2005;24:295-299.
-
(2005)
Int Angiol.
, vol.24
, pp. 295-2299
-
-
Puccio, D.1
Coppola, G.2
Corrado, E.3
Muratori, I.4
Pistone, G.5
Buongiorno, M.R.6
Arico, M.7
Novo, S.8
-
38
-
-
8144222977
-
Interrelations between brachial endothelial function and carotid intima-media thickness in young adults: The cardiovascular risk in young Finns Study
-
Juonala M, Viikari JS, Laitinen T, Marniemi J, Helenius H, Ronnemaa T, Raitakari OT. Interrelations between brachial endothelial function and carotid intima-media thickness in young adults: the cardiovascular risk in young Finns Study. Circulation. 2004;110:2918-2923.
-
(2004)
Circulation.
, vol.110
, pp. 2918-22923
-
-
Juonala, M.1
Viikari, J.S.2
Laitinen, T.3
Marniemi, J.4
Helenius, H.5
Ronnemaa, T.6
Raitakari, O.T.7
-
39
-
-
1242328760
-
Interrelationship between non-invasive measurements of atherosclerosis: Fow-mediated dilation of brachial artery, carotid intima-media thickness and pulse wave velocity
-
Kobayashi K, Akishita M, Yu W, Hashimoto M, Ohni M, Toba K. Interrelationship between non-invasive measurements of atherosclerosis: fow-mediated dilation of brachial artery, carotid intima-media thickness and pulse wave velocity. Atherosclerosis. 2004;173:13-18.
-
(2004)
Atherosclerosis.
, vol.173
, pp. 13-18
-
-
Kobayashi, K.1
Akishita, M.2
Yu, W.3
Hashimoto, M.4
Ohni, M.5
Toba, K.6
-
40
-
-
42649096326
-
Measurement of carotid intima-media thickness to assess progression and regression of atherosclerosis
-
de Groot E, van Leuven SI, Duivenvoorden R, Meuwese MC, Akdim F, Bots ML, Kastelein JJ. Measurement of carotid intima-media thickness to assess progression and regression of atherosclerosis. Nat Clin Pract Cardiovasc Med. 2008;5:280-288.
-
(2008)
Nat Clin Pract Cardiovasc Med.
, vol.5
, pp. 280-2288
-
-
De Groot, E.1
Van Leuven, S.I.2
Duivenvoorden, R.3
Meuwese, M.C.4
Akdim, F.5
Bots, M.L.6
Kastelein, J.J.7
-
41
-
-
34548305095
-
Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy
-
Takao M, Mori T, Orikasa H, Oh H, Suzuki K, Koto A, Yamazaki K. Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. Virchows Arch. 2007;451:721-727.
-
(2007)
Virchows Arch.
, vol.451
, pp. 721-7727
-
-
Takao, M.1
Mori, T.2
Orikasa, H.3
Oh, H.4
Suzuki, K.5
Koto, A.6
Yamazaki, K.7
-
42
-
-
36549050762
-
Coronary artery bypass grafting for Fabry's disease: Veins more suitable than arteries?
-
Chimenti C, Morgante E, Critelli G, Russo MA, Frustaci A. Coronary artery bypass grafting for Fabry's disease: veins more suitable than arteries? Hum Pathol. 2007;38:1864-1867.
-
(2007)
Hum Pathol.
, vol.38
, pp. 1864-11867
-
-
Chimenti, C.1
Morgante, E.2
Critelli, G.3
Russo, M.A.4
Frustaci, A.5
-
43
-
-
0026623293
-
Fabry disease: An unusual cause of severe coronary disease in a young man
-
Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med. 1992;117:221-223.
-
(1992)
Ann Intern Med.
, vol.117
, pp. 221-2223
-
-
Fisher, E.A.1
Desnick, R.J.2
Gordon, R.E.3
Eng, C.M.4
Griepp, R.5
Goldman, M.E.6
-
44
-
-
0034159755
-
Carotid wall thickness is predictive of incident clinical stroke: The Atherosclerosis Risk in Communities (ARIC) Study
-
Chambless LE, Folsom AR, Clegg LX, Sharrett AR, Shahar E, Nieto FJ, Rosamond WD, Evans G. Carotid wall thickness is predictive of incident clinical stroke: the Atherosclerosis Risk in Communities (ARIC) Study. Am J Epidemiol. 2000;151:478-487.
-
(2000)
Am J Epidemiol.
, vol.151
, pp. 478-4487
-
-
Chambless, L.E.1
Folsom, A.R.2
Clegg, L.X.3
Sharrett, A.R.4
Shahar, E.5
Nieto, F.J.6
Rosamond, W.D.7
Evans, G.8
-
45
-
-
64049115544
-
Angiotensin II, mitochondria, cytoskeletal, and extracellular matrix connections: An integrating viewpoint
-
de Cavanagh EM, Ferder M, Inserra F, Ferder L. Angiotensin II, mitochondria, cytoskeletal, and extracellular matrix connections: an integrating viewpoint. Am J Physiol Heart Circ Physiol. 2009;296:H550-H558.
-
(2009)
Am J Physiol Heart Circ Physiol.
, vol.296
-
-
De Cavanagh, E.M.1
Ferder, M.2
Inserra, F.3
Ferder, L.4
-
46
-
-
78651348512
-
ACE activity is modulated by the enzyme α-galactosidase A
-
Batista EC, Carvalho LR, Casarini DE, Carmona AK, dos Santos EL, da Silva ED, dos Santos RA, Nakaie CR, Rojas MV, de Oliveira SM, Bader M, D'Almeida V, Martins AM, de Picoly SK, Pesquero JB. ACE activity is modulated by the enzyme α-galactosidase A. J Mol Med (Berl). 2011;89:65-74.
-
(2011)
J Mol Med (Berl).
, vol.89
, pp. 65-74
-
-
Batista, E.C.1
Carvalho, L.R.2
Casarini, D.E.3
Carmona, A.K.4
Dos Santos, E.L.5
Da Silva, E.D.6
Dos Santos, R.A.7
Nakaie, C.R.8
Rojas, M.V.9
De Oliveira, S.M.10
Bader, M.11
D'Almeida, V.12
Martins, A.M.13
De Picoly, S.K.14
Pesquero, J.B.15
-
47
-
-
73949158308
-
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease
-
Brakch N, Dormond O, Bekri S, Golshayan D, Correvon M, Mazzolai L, Steinmann B, Barbey F. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J. 2010;31:67-76.
-
(2010)
Eur Heart J.
, vol.31
, pp. 67-76
-
-
Brakch, N.1
Dormond, O.2
Bekri, S.3
Golshayan, D.4
Correvon, M.5
Mazzolai, L.6
Steinmann, B.7
Barbey, F.8
-
48
-
-
3242696730
-
Physiological and pathological actions of sphingosine 1-phosphate
-
Hla T. Physiological and pathological actions of sphingosine 1-phosphate. Semin Cell Dev Biol. 2004;15:513-520.
-
(2004)
Semin Cell Dev Biol.
, vol.15
, pp. 513-5520
-
-
Hla, T.1
-
49
-
-
51749096383
-
The vascular S1P gradient-cellular sources and biological signifcance
-
Hla T, Venkataraman K, Michaud J. The vascular S1P gradient-cellular sources and biological signifcance. Biochim Biophys Acta. 2008;1781:477-482.
-
(2008)
Biochim Biophys Acta.
, vol.1781
, pp. 477-4482
-
-
Hla, T.1
Venkataraman, K.2
Michaud, J.3
-
50
-
-
80054972526
-
Consequences of a global enzyme shortage of agalsidase βin adult Dutch Fabry patients
-
Smid BE, Rombach SM, Aerts JM, Kuiper S, Mirzaian M, Overkleeft HS, Poorthuis BJ, Hollak CE, Groener JE, Linthorst GE. Consequences of a global enzyme shortage of agalsidase βin adult Dutch Fabry patients. Orphanet J Rare Dis. 2011;6:69.
-
(2011)
Orphanet J Rare Dis.
, vol.6
, pp. 69
-
-
Smid, B.E.1
Rombach, S.M.2
Aerts, J.M.3
Kuiper, S.4
Mirzaian, M.5
Overkleeft, H.S.6
Poorthuis, B.J.7
Hollak, C.E.8
Groener, J.E.9
Linthorst, G.E.10
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