-
1
-
-
67651123138
-
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, et al. (2009) Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant (7): 2102-11.
-
(2009)
Nephrol Dial Transplant
, vol.7
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
Bultas, J.4
Linthorst, G.E.5
-
2
-
-
33846447796
-
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels
-
Vedder AC, Linthorst GE, van Breemen MJ, Groener JEM, Bemelman FJ, et al. (2007) The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30(1): 68-78.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.1
, pp. 68-78
-
-
Vedder, A.C.1
Linthorst, G.E.2
van Breemen, M.J.3
Groener, J.E.M.4
Bemelman, F.J.5
-
3
-
-
0035811624
-
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, 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
Germain, D.P.4
Lee, P.5
-
4
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, 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
Sabnis, S.4
Moore, D.F.5
-
5
-
-
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
-
6
-
-
57449085309
-
A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease
-
Bénichou B, Goyal S, Sung C, Norfleet AM, Obrien F, (2009) A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab 96(1): 4-12.
-
(2009)
Mol Genet Metab
, vol.96
, Issue.1
, pp. 4-12
-
-
Bénichou, B.1
Goyal, S.2
Sung, C.3
Norfleet, A.M.4
Obrien, F.5
-
7
-
-
57649139284
-
Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome?
-
Hollak CEM, Linthorst GE, (2009) Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome? Mol Genet Metab. 96(1): 1-3.
-
(2009)
Mol Genet Metab
, vol.96
, Issue.1
, pp. 1-3
-
-
Hollak, C.E.M.1
Linthorst, G.E.2
-
8
-
-
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, Mills K, Young E, 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
Mills, K.4
Young, E.5
-
9
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, et al. (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci 105(8): 2812-2817.
-
(2008)
Proc Natl Acad Sci
, 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
-
10
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
-
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, et al. (2010) Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. BBA- Molecular Basis of Disease. 9: 1-8.
-
(2010)
BBA - Molecular Basis of Disease
, vol.9
, pp. 1-8
-
-
Rombach, S.M.1
Dekker, N.2
Bouwman, M.G.3
Linthorst, G.E.4
Zwinderman, A.H.5
-
11
-
-
79958165587
-
Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy
-
Sanchez-Niño MD, Sanz AB, Carrasco S, Saleem MA, Mathieson PW, et al. (2011) Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 26(6): 1797-802.
-
(2011)
Nephrol Dial Transplant
, vol.26
, Issue.6
, pp. 1797-1802
-
-
Sanchez-Niño, M.D.1
Sanz, A.B.2
Carrasco, S.3
Saleem, M.A.4
Mathieson, P.W.5
-
12
-
-
78650275925
-
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
-
van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, et al. (2011) Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 1812(1): 70-76.
-
(2011)
Biochim Biophys Acta
, vol.1812
, Issue.1
, pp. 70-76
-
-
van Breemen, M.J.1
Rombach, S.M.2
Dekker, N.3
Poorthuis, B.J.4
Linthorst, G.E.5
-
13
-
-
80054972526
-
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
-
Smid BE, Rombach SM, Aerts JM, Kuiper S, Mirzaian M, et al. (2011) Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 31 6(1): 69.
-
(2011)
Orphanet J Rare Dis
, vol.6
, Issue.1
, pp. 69
-
-
Smid, B.E.1
Rombach, S.M.2
Aerts, J.M.3
Kuiper, S.4
Mirzaian, M.5
-
14
-
-
39549116083
-
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
-
Vedder AC, Linthorst GE, Houge G, Groener JEM, Ormel EE, et al. (2007) Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2(7): e598.
-
(2007)
PLoS ONE
, vol.2
, Issue.7
-
-
Vedder, A.C.1
Linthorst, G.E.2
Houge, G.3
Groener, J.E.M.4
Ormel, E.E.5
-
15
-
-
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, et al. (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
-
16
-
-
0022588019
-
Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings
-
Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, et al. (1986) Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 57(6): 450-458.
-
(1986)
Am J Cardiol
, vol.57
, Issue.6
, pp. 450-458
-
-
Devereux, R.B.1
Alonso, D.R.2
Lutas, E.M.3
Gottlieb, G.J.4
Campo, E.5
-
17
-
-
34147204029
-
HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma
-
Groener JEM, Poorthuis BJHM, Kuiper S, Helmond MTJ, Hollak CEM, et al. (2007) HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma. Clin Chem. 53(4): 742-747.
-
(2007)
Clin Chem
, vol.53
, Issue.4
, pp. 742-747
-
-
Groener, J.E.M.1
Poorthuis, B.J.H.M.2
Kuiper, S.3
Helmond, M.T.J.4
Hollak, C.E.M.5
-
18
-
-
33845261493
-
A rapid method of total lipid extraction and purification
-
Bligh EG, Dyer WJ, (1959) A rapid method of total lipid extraction and purification. Can J Biochem Physiol 37(8): 911-917.
-
(1959)
Can J Biochem Physiol
, vol.37
, Issue.8
, pp. 911-917
-
-
Bligh, E.G.1
Dyer, W.J.2
-
19
-
-
16844377475
-
Is globotriaosylceramide a useful biomarker in Fabry disease?
-
Young E, Mills K, Morris P, Vellodi A, Lee P et al. (2005) Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 94(447):51-4.
-
(2005)
Acta Paediatr Suppl
, vol.94
, Issue.447
, pp. 51-54
-
-
Young, E.1
Mills, K.2
Morris, P.3
Vellodi, A.4
Lee, P.5
-
20
-
-
33750090709
-
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature
-
Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F, (2006) The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem. 4(4): 289-297.
-
(2006)
Cardiovasc Hematol Agents Med Chem
, vol.4
, Issue.4
, pp. 289-297
-
-
Bekri, S.1
Lidove, O.2
Jaussaud, R.3
Knebelmann, B.4
Barbey, F.5
-
21
-
-
84858281049
-
Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry registry
-
Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, et al. (2012) Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry registry. Mol Genet Metab 105(3): 443-9.
-
(2012)
Mol Genet Metab
, vol.105
, Issue.3
, pp. 443-449
-
-
Wilcox, W.R.1
Linthorst, G.E.2
Germain, D.P.3
Feldt-Rasmussen, U.4
Waldek, S.5
-
22
-
-
58149381758
-
Elimination of antibodies to recombinant enzyme in Pompe's disease
-
Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS, (2009) Elimination of antibodies to recombinant enzyme in Pompe's disease. N Engl J Med. 360(2): 194-195.
-
(2009)
N Engl J Med
, vol.360
, Issue.2
, pp. 194-195
-
-
Mendelsohn, N.J.1
Messinger, Y.H.2
Rosenberg, A.S.3
Kishnani, P.S.4
-
23
-
-
4344627627
-
Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease
-
Garman RD, Munroe K, Richards SM, (2004) Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease. Clin Exp Immunol 137(3): 496-502.
-
(2004)
Clin Exp Immunol
, vol.137
, Issue.3
, pp. 496-502
-
-
Garman, R.D.1
Munroe, K.2
Richards, S.M.3
-
24
-
-
70349316414
-
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
-
Lubanda J, Anijalg E, Bzdúch V, Thurberg B, Bénichou B, et al. (2009) Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med. 11(4): 256-64.
-
(2009)
Genet Med
, vol.11
, Issue.4
, pp. 256-264
-
-
Lubanda, J.1
Anijalg, E.2
Bzdúch, V.3
Thurberg, B.4
Bénichou, B.5
-
25
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
-
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, 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
Wilcox, W.R.4
Whitley, C.B.5
-
26
-
-
33645528253
-
Clinical benefit of enzyme replacement therapy in Fabry disease
-
Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C, (2006) Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69(7): 1216-1221.
-
(2006)
Kidney Int
, vol.69
, Issue.7
, pp. 1216-1221
-
-
Breunig, F.1
Weidemann, F.2
Strotmann, J.3
Knoll, A.4
Wanner, C.5
-
27
-
-
61349177862
-
Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy
-
Weideman F, Niemann M, Breunig F, Herrmann S, Beer M, et al. (2009) Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy. Circulation 119(4): 487-488.
-
(2009)
Circulation
, vol.119
, Issue.4
, pp. 487-488
-
-
Weideman, F.1
Niemann, M.2
Breunig, F.3
Herrmann, S.4
Beer, M.5
-
28
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain DP, Waldek S, Banikazemi M, Bushinsky DA, 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
Bushinsky, D.A.4
-
29
-
-
41449087436
-
The immunogenicity of therapeutic proteins and the Fabry antibody standardization initiative
-
Schellekens H, (2008) The immunogenicity of therapeutic proteins and the Fabry antibody standardization initiative. Clinical Therapeutics. 30Suppl B: S50-1.
-
(2008)
Clinical Therapeutics
, vol.30
-
-
Schellekens, H.1
|