-
1
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Prevalence of lysosomal storage disorders. Meikle PJ, Hopwood JJ, Clague AE, Carey WF, JAMA 1999 281 249 254 (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
2
-
-
0035238463
-
Fabry disease: Clinical features and recent advances in enzyme replacement therapy
-
Fabry disease: clinical features and recent advances in enzyme replacement therapy. Desnick RJ, Wasserstein MP, Adv Nephrol Necker Hosp 2001 31 317 339
-
(2001)
Adv Nephrol Necker Hosp
, vol.31
, pp. 317-339
-
-
Desnick, R.J.1
Wasserstein, M.P.2
-
4
-
-
53749104902
-
Fabry's disease
-
Fabry's disease. Zarate YA, Hopkin RJ, Lancet 2008 372 1427 1435
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
5
-
-
77951665982
-
Cardiac challenges in patients with Fabry disease
-
Cardiac challenges in patients with Fabry disease. Weidemann F, Linhart A, Monserrat L, Strotmann J, Int J Cardiol 2010 141 3 10
-
(2010)
Int J Cardiol
, vol.141
, pp. 3-10
-
-
Weidemann, F.1
Linhart, A.2
Monserrat, L.3
Strotmann, J.4
-
6
-
-
4644278970
-
Severe left ventricular hypertrophy in Anderson-Fabry disease
-
DOI 10.1136/hrt.2003.031666
-
Severe left ventricular hypertrophy in Anderson-Fabry disease. Bhatia GS, Leahy JF, Connolly DL, Davis RC, Heart 2004 90 1136 (Pubitemid 39279896)
-
(2004)
Heart
, vol.90
, Issue.10
, pp. 1136
-
-
Bhatia, G.S.1
Leahy, J.F.2
Connolly, D.L.3
Devis, R.C.4
-
7
-
-
38749098726
-
Treatment of Anderson-Fabry disease
-
DOI 10.1136/hrt.2006.113886
-
Treatment of Anderson-Fabry disease. Linhart A, Heart 2008 94 138 139 (Pubitemid 351211716)
-
(2008)
Heart
, vol.94
, Issue.2
, pp. 138-139
-
-
Linhart, A.1
-
8
-
-
55749096248
-
Onset and progression of the Anderson-Fabry disease related cardiomyopathy
-
Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, Whybra C, Gal A, Bultas J, Beck M, Int J Cardiol 2008 130 367 373
-
(2008)
Int J Cardiol
, vol.130
, pp. 367-373
-
-
Kampmann, C.1
Linhart, A.2
Baehner, F.3
Palecek, T.4
Wiethoff, C.M.5
Miebach, E.6
Whybra, C.7
Gal, A.8
Bultas, J.9
Beck, M.10
-
9
-
-
67649583702
-
Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: A prospective long-term cardiac magnetic resonance imaging study
-
Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Imbriaco M, Pisani A, Spinelli L, Cuocolo A, Messalli G, Capuano E, Marmo M, Liuzzi R, Visciano B, Cianciaruso B, Salvatore M, Heart 2009 95 1103 1107
-
(2009)
Heart
, vol.95
, pp. 1103-1107
-
-
Imbriaco, M.1
Pisani, A.2
Spinelli, L.3
Cuocolo, A.4
Messalli, G.5
Capuano, E.6
Marmo, M.7
Liuzzi, R.8
Visciano, B.9
Cianciaruso, B.10
Salvatore, M.11
-
10
-
-
37449005523
-
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
-
DOI 10.1016/j.jacc.2007.06.062, PII S0735109707031191
-
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yague J, Egido J, J Am Coll Cardiol 2007 50 2399 2403 (Pubitemid 50011583)
-
(2007)
Journal of the American College of Cardiology
, vol.50
, Issue.25
, pp. 2399-2403
-
-
Monserrat, L.1
Gimeno-Blanes, J.R.2
Marin, F.3
Hermida-Prieto, M.4
Garcia-Honrubia, A.5
Perez, I.6
Fernandez, X.7
De Nicolas, R.8
De La Morena, G.9
Paya, E.10
Yague, J.11
Egido, J.12
-
11
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
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, Tanaka H, N Engl J Med 1995 333 288 293
-
(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
Tanaka, H.11
-
12
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
DOI 10.1161/01.CIR.0000012626.81324.38
-
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, Circulation 2002 105 1407 1411 (Pubitemid 34263268)
-
(2002)
Circulation
, vol.105
, Issue.12
, 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
-
13
-
-
11144355110
-
Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients
-
DOI 10.1097/01.ASN.0000124671.61963.1E
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Fodinger M, Sunder-Plassmann G, J Am Soc Nephrol 2004 15 1323 1329 (Pubitemid 38526014)
-
(2004)
Journal of the American Society of Nephrology
, vol.15
, Issue.5
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
Paschke, E.4
Voigtlander, T.5
Auinger, M.6
Demmelbauer, K.7
Lorenz, M.8
Hauser, A.-C.9
Kofler, H.-J.10
Lhotta, K.11
Neyer, U.12
Pronai, W.13
Wallner, M.14
Wieser, C.15
Wiesholzer, M.16
Zodl, H.17
Fodinger, M.18
Sunder-Plassmann, G.19
-
14
-
-
20044373874
-
Recurrent strokes in a young adult patient with Fabry's disease [1]
-
DOI 10.1111/j.1468-1331.2005.01016.x
-
Recurrent strokes in a young adult patient with Fabry's disease. Tanaka N, Utsumi K, Seta T, Usuda K, Komaba Y, Katsumata T, Katsura KI, Sakamoto S, Katayama Y, Eur J Neurol 2005 12 486 487 (Pubitemid 40768671)
-
(2005)
European Journal of Neurology
, vol.12
, Issue.6
, pp. 486-487
-
-
Tanaka, N.1
Utsumi, K.2
Seta, T.3
Usuda, K.4
Komaba, Y.5
Katsumata, T.6
Katsura, K.-I.7
Sakamoto, S.8
Katayama, Y.9
-
15
-
-
33644895723
-
Later-onset Fabry disease: An adult variant presenting with the cramp-fasciculation syndrome
-
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ, Arch Neurol 2006 63 453 457
-
(2006)
Arch Neurol
, vol.63
, pp. 453-457
-
-
Nance, C.S.1
Klein, C.J.2
Banikazemi, M.3
Dikman, S.H.4
Phelps, R.G.5
McArthur, J.C.6
Rodriguez, M.7
Desnick, R.J.8
-
16
-
-
0042167499
-
Fabry disease
-
Fabry disease. Nagueh SF, Heart 2003 89 819 820 (Pubitemid 36920791)
-
(2003)
Heart
, vol.89
, Issue.8
, pp. 819-820
-
-
Nagueh, S.F.1
-
17
-
-
84884936036
-
High incidence of cardiac variant of fabry disease in Taiwanese revealed by newborn screening
-
High incidence of cardiac variant of fabry disease in Taiwanese revealed by newborn screening. Chong KW, Lu YH, Hsu JH, Lo MY, Hsiao CY, Niu DM, Taiwan Hum Genet Soc Autumn Symp 2008 1 92 98
-
(2008)
Taiwan Hum Genet Soc Autumn Symp
, vol.1
, pp. 92-98
-
-
Chong, K.W.1
Lu, Y.H.2
Hsu, J.H.3
Lo, M.Y.4
Hsiao, C.Y.5
Niu, D.M.6
-
18
-
-
77949893047
-
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
-
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM, Circ Cardiovasc Genet 2009 2 450 456
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 450-456
-
-
Lin, H.Y.1
Chong, K.W.2
Hsu, J.H.3
Yu, H.C.4
Shih, C.C.5
Huang, C.H.6
Lin, S.J.7
Chen, C.H.8
Chiang, C.C.9
Ho, H.J.10
Lee, P.C.11
Kao, C.H.12
Cheng, K.H.13
Hsueh, C.14
Niu, D.M.15
-
19
-
-
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)
-
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 HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW, Hum Mutat 2009 30 1397 1405
-
(2009)
Hum Mutat
, vol.30
, pp. 1397-1405
-
-
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
-
20
-
-
84880616117
-
Fabry disease: Incidence of the common later-onset-galactosidase A IVS4+919GA mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations
-
Fabry disease: incidence of the common later-onset -galactosidase A IVS4+919G→A mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations. Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL, Mol Med 2012 18 780 784
-
(2012)
Mol Med
, vol.18
, pp. 780-784
-
-
Chien, Y.H.1
Lee, N.C.2
Chiang, S.C.3
Desnick, R.J.4
Hwu, W.L.5
-
21
-
-
84880598081
-
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G > A)
-
doi:10.1136/bmjopen-2013-003146
-
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G > A). Lin HY, Liu HC, Huang YH, Liao HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, Lin CY, Lin SP, Niu DM, BMJ Open 2013 3 003146 doi:10.1136/bmjopen-2013-003146
-
(2013)
BMJ Open
, vol.3
, pp. 5003146
-
-
Lin, H.Y.1
Liu, H.C.2
Huang, Y.H.3
Liao, H.C.4
Hsu, T.R.5
Shen, C.I.6
Li, S.T.7
Li, C.F.8
Lee, L.H.9
Lee, P.C.10
Huang, C.K.11
Chiang, C.C.12
Lin, C.Y.13
Lin, S.P.14
Niu, D.M.15
-
22
-
-
77957554124
-
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G- > A)
-
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G- > A). Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM, J Inherit Metab Dis 2010 33 619 624
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 619-624
-
-
Lin, H.Y.1
Huang, C.H.2
Yu, H.C.3
Chong, K.W.4
Hsu, J.H.5
Lee, P.C.6
Cheng, K.H.7
Chiang, C.C.8
Ho, H.J.9
Lin, S.P.10
Chen, S.J.11
Lin, P.K.12
Niu, D.M.13
-
23
-
-
66349092464
-
Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: An important role for endomyocardial biopsy
-
Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy. Buja LM, Circulation 2009 119 2539 2541
-
(2009)
Circulation
, vol.119
, pp. 2539-2541
-
-
Buja, L.M.1
-
24
-
-
84355161977
-
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
-
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots. Tai CL, Liu MY, Yu HC, Chiang CC, Chiang H, Suen JH, Kao SM, Huang YH, Wu TJ, Yang CF, Tsai FC, Lin CY, Chang JG, Chen HD, Niu DM, Clin Chim Acta 2012 413 422 427
-
(2012)
Clin Chim Acta
, vol.413
, pp. 422-427
-
-
Tai, C.L.1
Liu, M.Y.2
Yu, H.C.3
Chiang, C.C.4
Chiang, H.5
Suen, J.H.6
Kao, S.M.7
Huang, Y.H.8
Wu, T.J.9
Yang, C.F.10
Tsai, F.C.11
Lin, C.Y.12
Chang, J.G.13
Chen, H.D.14
Niu, D.M.15
-
25
-
-
84897577226
-
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
-
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry. Lee SH, Li CF, Lin HY, Lin CH, Liu HC, Tsai SF, Niu DM, Mol Genet Metab 2014 111 507 512
-
(2014)
Mol Genet Metab
, vol.111
, pp. 507-512
-
-
Lee, S.H.1
Li, C.F.2
Lin, H.Y.3
Lin, C.H.4
Liu, H.C.5
Tsai, S.F.6
Niu, D.M.7
-
26
-
-
0031967760
-
Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease
-
DOI 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N
-
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease: mutations in brief no. 169: online. Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ, Hum Mutat 1998 11 328 330 (Pubitemid 28177875)
-
(1998)
Human Mutation
, vol.11
, Issue.4
, pp. 328-330
-
-
Chen, C.-H.1
Shyu, P.-W.2
Wu, S.-J.3
Sheu, S.-S.4
Desnick, R.J.5
Hsiao, K.-J.6
-
27
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
-
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, Bergh V, Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM, Biochim Biophys Acta 1802 2010 741 748
-
(1802)
Biochim Biophys Acta
, vol.2010
, 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
Bergh, V.8
Weerman, M.A.9
Groener, J.E.10
Poorthuis, B.J.11
Hollak, C.E.12
Aerts, J.M.13
-
28
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
DOI 10.1073/pnas.0712309105
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ, Proc Natl Acad Sci U S A 2008 105 2812 2817 (Pubitemid 351723626)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.8
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
Donker-Koopman, W.E.4
Strijland, A.5
Ottenhoff, R.6
Van Roomen, C.7
Mirzaian, M.8
Wijburg, F.A.9
Linthorst, G.E.10
Vedder, A.C.11
Rombach, S.M.12
Cox-Brinkman, J.13
Somerharju, P.14
Boot, R.G.15
Hollak, C.E.16
Brady, R.O.17
Poorthuis, B.J.18
-
29
-
-
84884938343
-
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4 + 919G > A)
-
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4 + 919G > A). Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM, Clin Chim Acta 2013 426 114 120
-
(2013)
Clin Chim Acta
, vol.426
, pp. 114-120
-
-
Liao, H.C.1
Huang, Y.H.2
Chen, Y.J.3
Kao, S.M.4
Lin, H.Y.5
Huang, C.K.6
Liu, H.C.7
Hsu, T.R.8
Lin, S.P.9
Yang, C.F.10
Fann, C.S.11
Chiu, P.C.12
Hsieh, K.S.13
Fu, Y.C.14
Ke, Y.Y.15
Lin, C.Y.16
Tsai, F.J.17
Wang, C.H.18
Chao, M.C.19
Yu, W.C.20
Chiang, C.C.21
Niu, D.M.22
more..
-
30
-
-
0022588019
-
Echocardiographic assessment of left ventricular hypertrophy: Comparison to necropsy findings
-
DOI 10.1016/0002-9149(86)90771-X
-
Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I, Reichek N, Am J Cardiol 1986 57 450 458 (Pubitemid 16119719)
-
(1986)
American Journal of Cardiology
, vol.57
, Issue.6
, pp. 450-458
-
-
Devereux, R.B.1
Alonso, D.R.2
Lutas, E.M.3
-
31
-
-
0036311224
-
Norepinephrine and concentric hypertrophy in patients with end-stage renal disease
-
DOI 10.1161/01.HYP.0000022063.50739.60
-
Norepinephrine and concentric hypertrophy in patients with end-stage renal disease. Zoccali C, Mallamaci F, Tripepi G, Parlongo S, Cutrupi S, Benedetto FA, Cataliotti A, Malatino LS, Investigators C, Hypertension 2002 40 41 46 (Pubitemid 34755977)
-
(2002)
Hypertension
, vol.40
, Issue.1
, pp. 41-46
-
-
Zoccali, C.1
Mallamaci, F.2
Tripepi, G.3
Parlongo, S.4
Cutrupi, S.5
Benedetto, F.A.6
Cataliotti, A.7
Malatino, L.S.8
-
32
-
-
23944473477
-
Echocardiography-based left ventricular mass estimation. How should we define hypertrophy?
-
Echocardiography-based left ventricular mass estimation. How should we define hypertrophy? Foppa M, Duncan BB, Rohde LE, Cardiovasc Ultrasound 2005 3 17
-
(2005)
Cardiovasc Ultrasound
, vol.3
, pp. 17
-
-
Foppa, M.1
Duncan, B.B.2
Rohde, L.E.3
-
33
-
-
33646173913
-
Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy
-
Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Beer M, Weidemann F, Breunig F, Knoll A, Koeppe S, Machann W, Hahn D, Wanner C, Strotmann J, Sandstede J, Am J Cardiol 2006 97 1515 1518
-
(2006)
Am J Cardiol
, vol.97
, pp. 1515-1518
-
-
Beer, M.1
Weidemann, F.2
Breunig, F.3
Knoll, A.4
Koeppe, S.5
Machann, W.6
Hahn, D.7
Wanner, C.8
Strotmann, J.9
Sandstede, J.10
-
34
-
-
61349177862
-
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment
-
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S, Voelker W, Ertl G, Wanner C, Strotmann J, Circulation 2009 119 524 529
-
(2009)
Circulation
, vol.119
, pp. 524-529
-
-
Weidemann, F.1
Niemann, M.2
Breunig, F.3
Herrmann, S.4
Beer, M.5
Stork, S.6
Voelker, W.7
Ertl, G.8
Wanner, C.9
Strotmann, J.10
-
35
-
-
84879223347
-
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers
-
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, Macgowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS, Eur Heart J Cardiovasc Imaging 2013 14 650 658
-
(2013)
Eur Heart J Cardiovasc Imaging
, vol.14
, pp. 650-658
-
-
Bates, M.G.1
Hollingsworth, K.G.2
Newman, J.H.3
Jakovljevic, D.G.4
Blamire, A.M.5
Macgowan, G.A.6
Keavney, B.D.7
Chinnery, P.F.8
Turnbull, D.M.9
Taylor, R.W.10
Trenell, M.I.11
Gorman, G.S.12
-
36
-
-
0037192118
-
Standardized myocardial sementation and nomenclature for tomographic imaging of the heart: A Statement for Healthcare Professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association
-
DOI 10.1161/hc0402.102975
-
Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, Pennell DJ, Rumberger JA, Ryan T, Verani MS, Circulation 2002 105 539 542 (Pubitemid 34262671)
-
(2002)
Circulation
, vol.105
, Issue.4
, pp. 539-542
-
-
Cerqueira, M.D.1
Weissman, N.J.2
Dilsizian, V.3
Jacobs, A.K.4
Kaul, S.5
Laskey, W.K.6
Pennell, D.J.7
Rumberger, J.A.8
Ryan, T.9
Verani, M.S.10
-
37
-
-
80052686044
-
Histologically measured cardiomyocyte hypertrophy correlates with body height as strongly as with body mass index
-
Histologically measured cardiomyocyte hypertrophy correlates with body height as strongly as with body mass index. Tracy RE, Sander GE, Cardiol Res Pract 2011 2011 658958
-
(2011)
Cardiol Res Pract
, vol.2011
, pp. 658958
-
-
Tracy, R.E.1
Sander, G.E.2
-
38
-
-
44849091570
-
Myofilament degradation and dysfunction of human cardiomyocytes in fabry disease
-
DOI 10.2353/ajpath.2008.070576
-
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, Am J Pathol 2008 172 1482 1490 (Pubitemid 351793342)
-
(2008)
American Journal of Pathology
, vol.172
, Issue.6
, pp. 1482-1490
-
-
Chimenti, C.1
Hamdani, N.2
Boontje, N.M.3
DeCobelli, F.4
Esposito, A.5
Bronzwaer, J.G.F.6
Stienen, G.J.M.7
Russo, M.A.8
Paulus, W.J.9
Frustaci, A.10
Van Der Velden, J.11
-
39
-
-
84864287005
-
Cardiac and skeletal myopathy in Fabry disease: A clinicopathologic correlative study
-
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study. Chimenti C, Padua L, Pazzaglia C, Morgante E, Centurion C, Antuzzi D, Russo MA, Frustaci A, Hum Pathol 2012 43 1444 1452
-
(2012)
Hum Pathol
, vol.43
, pp. 1444-1452
-
-
Chimenti, C.1
Padua, L.2
Pazzaglia, C.3
Morgante, E.4
Centurion, C.5
Antuzzi, D.6
Russo, M.A.7
Frustaci, A.8
-
40
-
-
84859958952
-
Cardiomyocyte size estimated from noninvasive measurements of left ventricular wall thickness and chamber diameter
-
Cardiomyocyte size estimated from noninvasive measurements of left ventricular wall thickness and chamber diameter. Tracy RE, J Am Soc Hypertens 2012 6 185 192
-
(2012)
J Am Soc Hypertens
, vol.6
, pp. 185-192
-
-
Tracy, R.E.1
-
41
-
-
84894416482
-
Eccentric may differ from concentric left ventricular hypertrophy because of variations in cardiomyocyte numbers
-
Eccentric may differ from concentric left ventricular hypertrophy because of variations in cardiomyocyte numbers. Tracy RE, J Card Fail 2013 19 517 522
-
(2013)
J Card Fail
, vol.19
, pp. 517-522
-
-
Tracy, R.E.1
-
42
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
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, Am J Hum Genet 2006 79 31 40 (Pubitemid 43927374)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, 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
-
43
-
-
84883270482
-
Newborn screening for Fabry disease in Japan: Prevalence and genotypes of Fabry disease in a pilot study
-
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S, J Hum Genet 2013 58 548 552
-
(2013)
J Hum Genet
, vol.58
, pp. 548-552
-
-
Inoue, T.1
Hattori, K.2
Ihara, K.3
Ishii, A.4
Nakamura, K.5
Hirose, S.6
-
44
-
-
84862797726
-
Fabry disease: Biochemical, pathological and structural studies of the alpha-galactosidase A with E66Q amino acid substitution
-
Fabry disease: biochemical, pathological and structural studies of the alpha-galactosidase A with E66Q amino acid substitution. Togawa T, Tsukimura T, Kodama T, Tanaka T, Kawashima I, Saito S, Ohno K, Fukushige T, Kanekura T, Satomura A, Kang DH, Lee BH, Yoo HW, Doi K, Noiri E, Sakuraba H, Mol Genet Metab 2012 105 615 620
-
(2012)
Mol Genet Metab
, vol.105
, pp. 615-620
-
-
Togawa, T.1
Tsukimura, T.2
Kodama, T.3
Tanaka, T.4
Kawashima, I.5
Saito, S.6
Ohno, K.7
Fukushige, T.8
Kanekura, T.9
Satomura, A.10
Kang, D.H.11
Lee, B.H.12
Yoo, H.W.13
Doi, K.14
Noiri, E.15
Sakuraba, H.16
-
45
-
-
20544450120
-
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry
-
DOI 10.1016/j.ymgme.2005.01.007, PII S1096719205000466
-
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B, Keutzer J, Mol Genet Metab 2005 85 196 202 (Pubitemid 40840759)
-
(2005)
Molecular Genetics and Metabolism
, vol.85
, Issue.3
, pp. 196-202
-
-
Kitagawa, T.1
Ishige, N.2
Suzuki, K.3
Owada, M.4
Ohashi, T.5
Kobayashi, M.6
Eto, Y.7
Tanaka, A.8
Mills, K.9
Winchester, B.10
Keutzer, J.11
-
46
-
-
84867896530
-
Mutant alpha-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level
-
Mutant alpha-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level. Mitobe S, Togawa T, Tsukimura T, Kodama T, Tanaka T, Doi K, Noiri E, Akai Y, Saito Y, Yoshino M, Takenaka T, Saito S, Ohno K, Sakuraba H, Mol Genet Metab 2012 107 623 626
-
(2012)
Mol Genet Metab
, vol.107
, pp. 623-626
-
-
Mitobe, S.1
Togawa, T.2
Tsukimura, T.3
Kodama, T.4
Tanaka, T.5
Doi, K.6
Noiri, E.7
Akai, Y.8
Saito, Y.9
Yoshino, M.10
Takenaka, T.11
Saito, S.12
Ohno, K.13
Sakuraba, H.14
-
47
-
-
1642455933
-
Sequelae of storage in Fabry disease - Pathology and comparison with other lysosomal storage diseases
-
Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Elleder M, Acta Paediatr Suppl 2003 92 46 53 discussion 45 (Pubitemid 38134751)
-
(2003)
Acta Paediatrica, International Journal of Paediatrics, Supplement
, vol.92
, Issue.443
, pp. 46-53
-
-
Elleder, M.1
-
48
-
-
0019427530
-
Light- and electron-microscopic histochemistry of Fabry's disease
-
Light- and electron-microscopic histochemistry of Fabry's disease. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ, Am J Pathol 1981 103 247 262 (Pubitemid 11112979)
-
(1981)
American Journal of Pathology
, vol.103
, Issue.2
, pp. 247-262
-
-
Faraggiana, T.1
Churg, J.2
Grishman, E.3
-
49
-
-
74049125336
-
Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring
-
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Hoffmann B, Orphanet J Rare Dis 2009 4 21
-
(2009)
Orphanet J Rare Dis
, vol.4
, pp. 21
-
-
Hoffmann, B.1
-
50
-
-
84884244536
-
Anderson-Fabry disease: A multiorgan disease
-
Anderson-Fabry disease: a multiorgan disease. Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G, Curr Pharm Des 2013 19 5974 5996
-
(2013)
Curr Pharm des
, vol.19
, pp. 5974-5996
-
-
Tuttolomondo, A.1
Pecoraro, R.2
Simonetta, I.3
Miceli, S.4
Pinto, A.5
Licata, G.6
-
52
-
-
33748881819
-
Fabry disease: A morphologic study of 11 cases
-
DOI 10.1038/modpathol.3800634, PII 3800634
-
Fabry disease: a morphologic study of 11 cases. Fischer EG, Moore MJ, Lager DJ, Mod Pathol 2006 19 1295 1301 (Pubitemid 44423075)
-
(2006)
Modern Pathology
, vol.19
, Issue.10
, pp. 1295-1301
-
-
Fischer, E.G.1
Moore, M.J.2
Lager, D.J.3
-
53
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease
-
DOI 10.1056/NEJM200107053450102
-
Safety and efficacy of recombinant human alpha-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, N Engl J Med 2001 345 9 16 (Pubitemid 32634266)
-
(2001)
New England Journal of Medicine
, vol.345
, Issue.1
, pp. 9-16
-
-
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
-
54
-
-
66349092222
-
Cardiac microvascular pathology in Fabry disease: Evaluation of endomyocardial biopsies before and after enzyme replacement therapy
-
Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW, Circulation 2009 119 2561 2567
-
(2009)
Circulation
, vol.119
, pp. 2561-2567
-
-
Thurberg, B.L.1
Fallon, J.T.2
Mitchell, R.3
Aretz, T.4
Gordon, R.E.5
O'Callaghan, M.W.6
-
55
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ, N Engl J Med 1991 324 395 399
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
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
-
56
-
-
0035811674
-
Improvement in cardiac function in the cardiac variant of fabry's disease with galactose-infusion therapy
-
DOI 10.1056/NEJM200107053450104
-
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ, N Engl J Med 2001 345 25 32 (Pubitemid 32634268)
-
(2001)
New England Journal of Medicine
, vol.345
, Issue.1
, pp. 25-32
-
-
Frustaci, A.1
Chimenti, C.2
Ricci, R.3
Natale, L.4
Russo, M.5
Pieroni, M.6
Eng, C.M.7
Desnick, R.J.8
-
57
-
-
43949098964
-
Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study
-
DOI 10.1016/j.jjcc.2007.12.001
-
Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y, Yoshida H, Horinouchi M, Tabata K, Yonezawa S, Highchi K, Nakao S, Anan R, Minagoe S, Tei C, J Cardiol 2008 51 50 59 (Pubitemid 351699928)
-
(2008)
Journal of Cardiology
, vol.51
, Issue.1
, pp. 50-59
-
-
Takenaka, T.1
Teraguchi, H.2
Yoshida, A.3
Taguchi, S.4
Ninomiya, K.5
Umekita, Y.6
Yoshida, H.7
Horinouchi, M.8
Tabata, K.9
Yonezawa, S.10
Yoshimitsu, M.11
Higuchi, K.12
Nakao, S.13
Anan, R.14
Minagoe, S.15
Tei, C.16
-
58
-
-
0036389567
-
Fabry disease: Twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
-
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Germain DP, Shabbeer J, Cotigny S, Desnick RJ, Mol Med 2002 8 306 312
-
(2002)
Mol Med
, vol.8
, pp. 306-312
-
-
Germain, D.P.1
Shabbeer, J.2
Cotigny, S.3
Desnick, R.J.4
-
59
-
-
84904427432
-
Autonomic nervous system activity in patients with Fabry disease
-
Autonomic nervous system activity in patients with Fabry disease. Eric A, Aurore S, R F, Vincent P, Jean-Claude B, Open J Intern Med 2012 2 116 122
-
(2012)
Open J Intern Med
, vol.2
, pp. 116-122
-
-
Eric, A.1
Aurore, S.F.R.2
Vincent, P.3
Jean-Claude, B.4
-
60
-
-
84925382421
-
Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent n patients with GLA later0onset mutations, polymorphisms, and variant
-
Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent n patients with GLA later0onset mutations, polymorphisms, and variant. Desnick RJ, Doheny D, Mol Genet Adn Metab 2014 111 36 s37
-
(2014)
Mol Genet Adn Metab
, vol.111
-
-
Desnick, R.J.1
Doheny, D.2
-
62
-
-
7244251627
-
Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy
-
DOI 10.1023/B:BOLI.0000045841.27968.06
-
Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy. Cartwright DJ, Cole AL, Cousins AJ, Lee PJ, J Inherit Metab Dis 2004 27 791 793 (Pubitemid 39433611)
-
(2004)
Journal of Inherited Metabolic Disease
, vol.27
, Issue.6
, pp. 791-793
-
-
Cartwright, D.J.1
Cole, A.L.2
Cousins, A.J.3
Lee, P.J.4
-
63
-
-
33646047416
-
Effect of selective LDL-apheresis in a Fabry patient with recurrent strokes
-
Effect of selective LDL-apheresis in a Fabry patient with recurrent strokes. Utsumi K, Seta T, Katsumata T, Komaba Y, Igarashi H, Katsura KI, Iino Y, Katayama Y, Eur J Neurol 2006 13 429 430
-
(2006)
Eur J Neurol
, vol.13
, pp. 429-430
-
-
Utsumi, K.1
Seta, T.2
Katsumata, T.3
Komaba, Y.4
Igarashi, H.5
Katsura, K.I.6
Iino, Y.7
Katayama, Y.8
-
64
-
-
84871906107
-
Agalsidase benefits renal histology in young patients with Fabry disease
-
Agalsidase benefits renal histology in young patients with Fabry disease. Tondel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E, J Am Soc Nephrol 2013 24 137 148
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 137-148
-
-
Tondel, C.1
Bostad, L.2
Larsen, K.K.3
Hirth, A.4
Vikse, B.E.5
Houge, G.6
Svarstad, E.7
-
65
-
-
20844452038
-
The variation of morphological and functional cardiac manifestation in Fabry disease: Potential implications for the time course of the disease
-
DOI 10.1093/eurheartj/ehi143
-
The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Weidemann F, Breunig F, Beer M, Sandstede J, Stork S, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM, Eur Heart J 2005 26 1221 1227 (Pubitemid 40863129)
-
(2005)
European Heart Journal
, vol.26
, Issue.12
, pp. 1221-1227
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
Sandstede, J.4
Stork, S.5
Voelker, W.6
Ertl, G.7
Knoll, A.8
Wanner, C.9
Strotmann, J.M.10
-
66
-
-
84880213936
-
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping
-
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, Fontana M, Maestrini V, Flett AS, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Neubauer S, Elliott PM, Moon JC, Circ Cardiovasc Imaging 2013 6 392 398
-
(2013)
Circ Cardiovasc Imaging
, vol.6
, pp. 392-398
-
-
Sado, D.M.1
White, S.K.2
Piechnik, S.K.3
Banypersad, S.M.4
Treibel, T.5
Captur, G.6
Fontana, M.7
Maestrini, V.8
Flett, A.S.9
Robson, M.D.10
Lachmann, R.H.11
Murphy, E.12
Mehta, A.13
Hughes, D.14
Neubauer, S.15
Elliott, P.M.16
Moon, J.C.17
-
67
-
-
84865647334
-
MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease
-
MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease. Koeppe S, Neubauer H, Breunig F, Weidemann F, Wanner C, Sandstede J, Machann W, Hahn D, Kostler H, Beer M, Int J Cardiol 2012 160 53 58
-
(2012)
Int J Cardiol
, vol.160
, pp. 53-58
-
-
Koeppe, S.1
Neubauer, H.2
Breunig, F.3
Weidemann, F.4
Wanner, C.5
Sandstede, J.6
Machann, W.7
Hahn, D.8
Kostler, H.9
Beer, M.10
|