-
2
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001; 24: 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
-
Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol. 2002; 40: 1668-1674.
-
(2002)
J Am Coll Cardiol.
, vol.40
, pp. 1668-1674
-
-
Kampmann, C.1
Baehner, F.2
Whybra, C.3
Martin, C.4
Wiethoff, C.M.5
Ries, M.6
Gal, A.7
Beck, M.8
-
4
-
-
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. doi: 10. 1056/NEJM199508033330504.
-
(1995)
N Engl J Med.
, vol.333
, pp. 288-293
-
-
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
-
5
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002; 105: 1407-1411.
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
Tei, C.4
Lee, P.5
McKenna, W.J.6
Elliott, P.M.7
-
6
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA, Maseri A, Frustaci A. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004; 110: 1047-1053. doi: 10. 1161/01. CIR. 0000139847. 74101. 03.
-
(2004)
Circulation
, vol.110
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
Antuzzi, D.4
Russo, A.5
Russo, M.A.6
Maseri, A.7
Frustaci, A.8
-
7
-
-
24944513802
-
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease
-
Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, Mehta AB, Elliott PM. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005; 96: 842-846. doi: 10. 1016/j. amjcard. 2005. 05. 033.
-
(2005)
Am J Cardiol.
, vol.96
, pp. 842-846
-
-
Shah, J.S.1
Hughes, D.A.2
Sachdev, B.3
Tome, M.4
Ward, D.5
Lee, P.6
Mehta, A.B.7
Elliott, P.M.8
-
8
-
-
33645260984
-
Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease
-
Igawa O, Miake J, Hisatome I. Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease. Pacing Clin Electrophysiol. 2005; 28: 1142-1143. doi: 10. 1111/j. 1540-8159. 2005. 00241. x.
-
(2005)
Pacing Clin Electrophysiol.
, vol.28
, pp. 1142-1143
-
-
Igawa, O.1
Miake, J.2
Hisatome, I.3
-
9
-
-
78049241962
-
Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation
-
Chimenti C, Russo MA, Frustaci A. Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation. Heart. 2010; 96: 1782-1783. doi: 10. 1136/hrt. 2010. 196162.
-
(2010)
Heart.
, vol.96
, pp. 1782-1783
-
-
Chimenti, C.1
Russo, M.A.2
Frustaci, A.3
-
10
-
-
34548681011
-
Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: Prominent infiltration of cardiac conduction tissue
-
Frustaci A, Chimenti C. Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: Prominent infiltration of cardiac conduction tissue. Circulation. 2007; 116: e350-e351. doi: 10. 1161/CIRCULATIONAHA. 107. 723387.
-
(2007)
Circulation
, vol.116
, pp. e350-e351
-
-
Frustaci, A.1
Chimenti, C.2
-
11
-
-
84919846337
-
Insights into cardiac conduction system formation provided by HCN4 expression
-
Liang X, Evans SM, Sun Y. Insights into cardiac conduction system formation provided by HCN4 expression. Trends Cardiovasc Med. 2015; 25: 1-9. doi: 10. 1016/j. Tcm. 2014. 08. 009.
-
(2015)
Trends Cardiovasc Med.
, vol.25
, pp. 1-9
-
-
Liang, X.1
Evans, S.M.2
Sun, Y.3
-
12
-
-
84885022083
-
Contribution and risks of left ventricular endomyocardial biopsy in patients with cardiomyopathies: A retrospective study over a 28-year period
-
Chimenti C, Frustaci A. Contribution and risks of left ventricular endomyocardial biopsy in patients with cardiomyopathies: A retrospective study over a 28-year period. Circulation. 2013; 128: 1531-1541. doi: 10. 1161/CIRCULATIONAHA. 13. 001414.
-
(2013)
Circulation
, vol.128
, pp. 1531-1541
-
-
Chimenti, C.1
Frustaci, A.2
-
13
-
-
0033618336
-
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons
-
Korkotian E, Schwarz A, Pelled D, Schwarzmann G, Segal M, Futerman AH. Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem. 1999; 274: 21673-21678.
-
(1999)
J Biol Chem.
, vol.274
, pp. 21673-21678
-
-
Korkotian, E.1
Schwarz, A.2
Pelled, D.3
Schwarzmann, G.4
Segal, M.5
Futerman, A.H.6
-
14
-
-
0015927699
-
The abbreviated PR interval of Fabry's disease
-
Roudebush CP, Foerster JM, Bing OH. The abbreviated PR interval of Fabry's disease. N Engl J Med. 1973; 289: 357-358. doi: 10. 1056/ NEJM197308162890709.
-
(1973)
N Engl J Med.
, vol.289
, pp. 357-358
-
-
Roudebush, C.P.1
Foerster, J.M.2
Bing, O.H.3
-
15
-
-
0017720849
-
Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease
-
Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am Heart J. 1977; 93: 699-705.
-
(1977)
Am Heart J.
, vol.93
, pp. 699-705
-
-
Mehta, J.1
Tuna, N.2
Moller, J.H.3
Desnick, R.J.4
-
16
-
-
76849106705
-
PQ interval in patients with Fabry disease
-
Namdar M, Kampmann C, Steffel J, Walder D, Holzmeister J, Lüscher TF, Jenni R, Duru F. PQ interval in patients with Fabry disease. Am J Cardiol. 2010; 105: 753-756. doi: 10. 1016/j. amjcard. 2009. 10. 056.
-
(2010)
Am J Cardiol.
, vol.105
, pp. 753-756
-
-
Namdar, M.1
Kampmann, C.2
Steffel, J.3
Walder, D.4
Holzmeister, J.5
Lüscher, T.F.6
Jenni, R.7
Duru, F.8
-
17
-
-
44849091570
-
Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease
-
Chimenti C, Hamdani N, Boontje NM, DeCobelli F, Esposito A, Bronzwaer JG, Stienen GJ, Russo MA, Paulus WJ, Frustaci A, van der Velden J. Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease. Am J Pathol. 2008; 172: 1482-1490. doi: 10. 2353/ ajpath. 2008. 070576.
-
(2008)
Am J Pathol.
, vol.172
, pp. 1482-1490
-
-
Chimenti, C.1
Hamdani, N.2
Boontje, N.M.3
DeCobelli, F.4
Esposito, A.5
Bronzwaer, J.G.6
Stienen, G.J.7
Russo, M.A.8
Paulus, W.J.9
Frustaci, A.10
Van Der Velden, J.11
-
18
-
-
0037456761
-
PR interval and the response to enzyme-replacement therapy for Fabry's disease
-
Waldek S. PR interval and the response to enzyme-replacement therapy for Fabry's disease. N Engl J Med. 2003; 348: 1186-1187. doi: 10. 1056/ NEJM200303203481224.
-
(2003)
N Engl J Med.
, vol.348
, pp. 1186-1187
-
-
Waldek, S.1
-
19
-
-
0035097499
-
A phase. Clinical trial of enzyme replacement in fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ. A phase . clinical trial of enzyme replacement in fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001; 68: 711-722. doi: 10. 1086/318809.
-
(2001)
Am J Hum Genet.
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
Goldman, M.4
Phelps, R.5
Kim, L.6
Gass, A.7
Winston, J.8
Dikman, S.9
Fallon, J.T.10
Brodie, S.11
Stacy, C.B.12
Mehta, D.13
Parsons, R.14
Norton, K.15
O'Callaghan, M.16
Desnick, R.J.17
-
20
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, 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. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
|