-
1
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2):77–86
-
(2007)
Ann Intern Med
, vol.146
, Issue.2
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
2
-
-
10644231988
-
Fabry disease: Overall effects of agalsidase alfa treatment
-
Beck M, Ricci R, Widmer U et al (2004) Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34(12):838–844
-
(2004)
Eur J Clin Invest
, vol.34
, Issue.12
, pp. 838-844
-
-
Beck, M.1
Ricci, R.2
Widmer, U.3
-
3
-
-
0014216741
-
Enzymatic defect in Fabry’s disease. Ceramidetrihex-osidase deficiency
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihex-osidase deficiency. N Engl J Med 276(21):1163–1167
-
(1967)
N Engl J Med
, vol.276
, Issue.21
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
4
-
-
0036266877
-
Natural history and treatment of renal involvement in Fabry disease
-
Branton M, Schiffmann R, Kopp JB (2002) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139–143
-
(2002)
J am Soc Nephrol
, vol.13
, pp. S139-S143
-
-
Branton, M.1
Schiffmann, R.2
Kopp, J.B.3
-
6
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, 8th edn. McGraw-Hill, New York
-
Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733–3774
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.1
Ioannou, Y.2
Eng, C.3
-
7
-
-
0015583864
-
Fabry’s disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
-
Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry’s disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J lLab Clin Med 81(2):157–171
-
(1973)
J Llab Clin Med
, vol.81
, Issue.2
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
Raman, M.K.4
Bernlohr, R.W.5
Krivit, W.6
-
8
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease
-
Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345(1):9–16
-
(2001)
N Engl J Med
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
9
-
-
84988571131
-
-
Accessed 1 June 2012, from
-
European Medicines Agency (2009) Questions and answers on the shortages of Cerezyme and Fabrazyme. Accessed 1 June 2012, from http://www.emea.europa.eu/docs/en_GB/document_library/Medicine_QA/2009/12/WC500018393.pdf
-
(2009)
Questions and Answers on the Shortages of Cerezyme and Fabrazyme
-
-
-
10
-
-
85060347489
-
-
European Medicines Agency (2010) Assessment report for Fabrazyme agalsidase beta. Accessed 1 June 2012, from www.ema.europa.eu/ docs/en_GB/document_library/Other/2010/11/wc500099241.pdf
-
(2010)
Assessment Report for Fabrazyme Agalsidase Beta
-
-
-
11
-
-
85014874439
-
-
Accessed 1 June 2012, from
-
European Medicines Agency (2010) European Medicines Agency reviews treatment recommendations for Fabrazyme. Accessed 1 June 2012, from http://www.ema.europa.eu/ema/index.jsp?curl=-pages/news_and_events/news/2010/10/news_detail_001136. jsp&mid=WC0b01ac058004d5c1
-
(2010)
European Medicines Agency Reviews Treatment Recommendations for Fabrazyme
-
-
-
12
-
-
84857082168
-
The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy
-
Feriozzi S, Torras J, Cybulla M et al (2012) The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 7(1):60–69
-
(2012)
Clin J am Soc Nephrol
, vol.7
, Issue.1
, pp. 60-69
-
-
Feriozzi, S.1
Torras, J.2
Cybulla, M.3
-
13
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain DP, Waldek S, Banikazemi M et al (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18(5):1547–1557
-
(2007)
J am Soc Nephrol
, vol.18
, Issue.5
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
14
-
-
38749130497
-
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
-
Hughes DA, Elliott PM, Shah J et al (2008) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94(2):153–158
-
(2008)
Heart
, vol.94
, Issue.2
, pp. 153-158
-
-
Hughes, D.A.1
Elliott, P.M.2
Shah, J.3
-
15
-
-
67649583702
-
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 et al (2009) Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 95(13):1103–1107
-
(2009)
Heart
, vol.95
, Issue.13
, pp. 1103-1107
-
-
Imbriaco, M.1
Pisani, A.2
Spinelli, L.3
-
16
-
-
0035163539
-
Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
-
Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ (2001) Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68(1):14–25
-
(2001)
Am J Hum Genet
, vol.68
, Issue.1
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
17
-
-
55749096248
-
Onset and progression of the Anderson-Fabry disease related cardiomyopathy
-
Kampmann C, Linhart A, Baehner F et al (2008) Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 130(3):367–373
-
(2008)
Int J Cardiol
, vol.130
, Issue.3
, pp. 367-373
-
-
Kampmann, C.1
Linhart, A.2
Baehner, F.3
-
18
-
-
45849123200
-
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters
-
Koskenvuo JW, Hartiala JJ, Nuutila P et al (2008) Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 31(3):432–441
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.3
, pp. 432-441
-
-
Koskenvuo, J.W.1
Hartiala, J.J.2
Nuutila, P.3
-
19
-
-
54949143668
-
Anderson-Fabry disease: Long-term echocardiographic follow-up under enzyme replacement therapy
-
Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH et al (2008) Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 9(6):729–735
-
(2008)
Eur J Echocardiogr
, vol.9
, Issue.6
, pp. 729-735
-
-
Kovacevic-Preradovic, T.1
Zuber, M.2
Attenhofer Jost, C.H.3
-
20
-
-
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 (1999) 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 130(6):461–470
-
(1999)
Ann Intern Med
, vol.130
, Issue.6
, pp. 461-470
-
-
Levey, A.S.1
Bosch, J.P.2
Lewis, J.B.3
Greene, T.4
Rogers, N.5
Roth, D.6
-
21
-
-
78649634506
-
Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature
-
Lidove O, West ML, Pintos-Morell G et al (2010) Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature. Genet Med 12(11):668–679
-
(2010)
Genet Med
, vol.12
, Issue.11
, pp. 668-679
-
-
Lidove, O.1
West, M.L.2
Pintos-Morell, G.3
-
22
-
-
38749098726
-
Treatment of Anderson-Fabry disease
-
Linhart A (2008) Treatment of Anderson-Fabry disease. Heart 94(2):138–139
-
(2008)
Heart
, vol.94
, Issue.2
, pp. 138-139
-
-
Linhart, A.1
-
23
-
-
34247327312
-
The heart in Anderson-Fabry disease and other lysosomal storage disorders
-
Linhart A, Elliott PM (2007) The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93(4):528–535
-
(2007)
Heart
, vol.93
, Issue.4
, pp. 528-535
-
-
Linhart, A.1
Elliott, P.M.2
-
24
-
-
78650903828
-
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)
-
Linthorst GE, Germain DP, Hollak CE et al (2011) Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 102(1):99–102
-
(2011)
Mol Genet Metab
, vol.102
, Issue.1
, pp. 99-102
-
-
Linthorst, G.E.1
Germain, D.P.2
Hollak, C.E.3
-
25
-
-
4644316602
-
Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta
-
Linthorst GE, Hollak CEM, Donker-Koopman WE, Strijland A, Aerts JMFG (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66(4):1589–1595
-
(2004)
Kidney Int
, vol.66
, Issue.4
, pp. 1589-1595
-
-
Linthorst, G.E.1
Hollak, C.E.M.2
Donker-Koopman, W.E.3
Strijland, A.4
Aerts, J.M.F.G.5
-
26
-
-
71649111830
-
Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: An analysis of registry data
-
Mehta A, Beck M, Elliott P et al (2009) Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: an analysis of registry data. Lancet 374(9706):1986–1996
-
(2009)
Lancet
, vol.374
, Issue.9706
, pp. 1986-1996
-
-
Mehta, A.1
Beck, M.2
Elliott, P.3
-
27
-
-
78649632339
-
Therapeutic goals in the treatment of Fabry disease
-
Mehta A, West ML, Pintos-Morell G et al (2010) Therapeutic goals in the treatment of Fabry disease. Genet Med 12(11):713–720
-
(2010)
Genet Med
, vol.12
, Issue.11
, pp. 713-720
-
-
Mehta, A.1
West, M.L.2
Pintos-Morell, G.3
-
28
-
-
0023576853
-
The short-form McGill pain questionnaire
-
Melzack R (1987) The short-form McGill pain questionnaire. Pain 30(2):191–197
-
(1987)
Pain
, vol.30
, Issue.2
, pp. 191-197
-
-
Melzack, R.1
-
29
-
-
79951595694
-
Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy
-
Morrissey RP, Philip KJ, Schwarz ER (2011) Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovascular J Africa 22(1):38–44
-
(2011)
Cardiovascular J Africa
, vol.22
, Issue.1
, pp. 38-44
-
-
Morrissey, R.P.1
Philip, K.J.2
Schwarz, E.R.3
-
30
-
-
67651111995
-
Nephropathy in Fabry disease: The importance of early diagnosis and testing in high-risk populations
-
Oqvist B, Brenner BM, Oliveira JP et al (2009) Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transplant 24(6): 1736–1743
-
(2009)
Nephrol Dial Transplant
, vol.24
, Issue.6
, pp. 1736-1743
-
-
Oqvist, B.1
Brenner, B.M.2
Oliveira, J.P.3
-
31
-
-
44449115633
-
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults
-
Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG (2008) Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol 4(6):327–336
-
(2008)
Nat Clin Pract Nephrol
, vol.4
, Issue.6
, pp. 327-336
-
-
Ortiz, A.1
Oliveira, J.P.2
Wanner, C.3
Brenner, B.M.4
Waldek, S.5
Warnock, D.G.6
-
32
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285(21):2743–2749
-
(2001)
JAMA
, vol.285
, Issue.21
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
33
-
-
80054972526
-
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
-
Smid BE, Rombach SM, Aerts JMFG et al (2011) Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 6:69
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 69
-
-
Smid, B.E.1
Rombach, S.M.2
Aerts, J.M.F.G.3
-
34
-
-
84866106779
-
Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagel)
-
Epub ahead of print
-
Tsuboi K, Yamamoto H (2012) Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagel). Genetics Med [Epub ahead of print: doi:101038/gim/2012/39]
-
(2012)
Genetics Med
-
-
Tsuboi, K.1
Yamamoto, H.2
-
35
-
-
44949248124
-
Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
-
Vedder AC, Breunig F, Donker-Koopman WE et al (2008) Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 94(3): 319–325
-
(2008)
Mol Genet Metab
, vol.94
, Issue.3
, pp. 319-325
-
-
Vedder, A.C.1
Breunig, F.2
Donker-Koopman, W.E.3
-
37
-
-
77749320320
-
Enzyme replacement therapy and Fabry nephropathy
-
Warnock DG, Daina E, Remuzzi G, West M (2010) Enzyme replacement therapy and Fabry nephropathy. Clin J Am Soc Nephrol 5(2):371–378
-
(2010)
Clin J am Soc Nephrol
, vol.5
, Issue.2
, pp. 371-378
-
-
Warnock, D.G.1
Daina, E.2
Remuzzi, G.3
West, M.4
-
38
-
-
20844452038
-
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 et al (2005) The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26(12):1221–1227
-
(2005)
Eur Heart J
, vol.26
, Issue.12
, pp. 1221-1227
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
-
39
-
-
0141765881
-
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
-
Weidemann F, Breunig F, Beer M et al (2003) Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108(11):1299–1301
-
(2003)
Circulation
, vol.108
, Issue.11
, pp. 1299-1301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
-
40
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75(1):65–74
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
-
41
-
-
53749104902
-
Fabry's disease
-
Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372(9647): 1427–1435
-
(2008)
Lancet
, vol.372
, Issue.9647
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
|