-
1
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet A, Sly W, Valle D, editors, New York: McGraw Hill
-
Desnick RJ, Ioannou YA, Eng CM, Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet A, Sly W, Valle D, editors. Metabolic and molecular bases of inherited disease. New York: McGraw Hill, 2001:3733-3774.
-
(2001)
Metabolic and molecular bases of inherited disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, et al. 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. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
-
3
-
-
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, et al. 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. 839-844
-
-
Barbey, F.1
Brakch, N.2
Linhart, A.3
-
4
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry’s disease
-
Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
5
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-722.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
-
6
-
-
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. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-1557.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
7
-
-
40849094670
-
Safety and efficacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease
-
Wraith JE, Tylki-Szymanska A, Guffon N, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152:563-570.
-
(2008)
J Pediatr
, vol.152
, pp. 563-570
-
-
Wraith, J.E.1
Tylki-Szymanska, A.2
Guffon, N.3
-
8
-
-
33645528253
-
Clinical benefit of enzyme replacement therapy in Fabry disease
-
Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006;69:1216-1221.
-
(2006)
Kidney Int
, vol.69
, pp. 1216-1221
-
-
Breunig, F.1
Weidemann, F.2
Strotmann, J.3
Knoll, A.4
Wanner, C.5
-
9
-
-
33846908304
-
Agalsidase beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S, et al. Agalsidase beta 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
-
10
-
-
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. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299-1301.
-
(2003)
Circulation
, vol.108
, pp. 1299-1301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
-
11
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75:65-74.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
-
12
-
-
2342544939
-
Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies
-
Thurberg BL, Byers HR, Granter SR, et al. Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies. J Invest Dermatol 2004;122:900-908.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 900-908
-
-
Thurberg, B.L.1
Byers, H.R.2
Granter, S.R.3
-
13
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002;62:1933-1946.
-
(2002)
Kidney Int
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
-
14
-
-
11144298914
-
Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy
-
Roddy TP, Nelson BC, Sung CC, et al. Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 2005;51:237-240.
-
(2005)
Clin Chem
, vol.51
, pp. 237-240
-
-
Roddy, T.P.1
Nelson, B.C.2
Sung, C.C.3
-
15
-
-
20544450120
-
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry
-
Kitagawa T, Ishige N, Suzuki K, et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 2005;85:196-202.
-
(2005)
Mol Genet Metab
, vol.85
, pp. 196-202
-
-
Kitagawa, T.1
Ishige, N.2
Suzuki, K.3
-
16
-
-
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. 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 1999;130:461-470.
-
(1999)
Ann Intern Med
, vol.130
, pp. 461-470
-
-
Levey, A.S.1
Bosch, J.P.2
Lewis, J.B.3
Greene, T.4
Rogers, N.5
Roth, D.6
-
17
-
-
57449085309
-
A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease
-
Benichou B, Goyal S, Sung C, Norfleet AM, O’Brien F. 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 2009;96:4-12.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 4-12
-
-
Benichou, B.1
Goyal, S.2
Sung, C.3
Norfleet, A.M.4
O’Brien, F.5
-
18
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000;47:229-233.
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
-
19
-
-
0023212386
-
Effect of vitamin E and ticlopidine on platelet aggregation in Fabry’s disease
-
Sakuraba H, Igarashi T, Shibata T, Suzuki Y. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry’s disease. Clin Genet 1987;31:349-354.
-
(1987)
Clin Genet
, vol.31
, pp. 349-354
-
-
Sakuraba, H.1
Igarashi, T.2
Shibata, T.3
Suzuki, Y.4
-
20
-
-
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. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 2008;94:319-325.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 319-325
-
-
Vedder, A.C.1
Breunig, F.2
Donker-Koopman, W.E.3
-
21
-
-
4644316602
-
Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta
-
Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004;66:1589-1595.
-
(2004)
Kidney Int
, vol.66
, pp. 1589-1595
-
-
Linthorst, G.E.1
Hollak, C.E.2
Donker-Koopman, W.E.3
Strijland, A.4
Aerts, J.M.5
-
22
-
-
34848819423
-
Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy
-
Ohashi T, Sakuma M, Kitagawa T, Suzuki K, Ishige N, Eto Y. Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. Mol Genet Metab 2007;92:271-273.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 271-273
-
-
Ohashi, T.1
Sakuma, M.2
Kitagawa, T.3
Suzuki, K.4
Ishige, N.5
Eto, Y.6
-
23
-
-
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, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2007;2:e598.
-
(2007)
PLoS ONE
, vol.2
, pp. e598
-
-
Vedder, A.C.1
Linthorst, G.E.2
Houge, G.3
-
24
-
-
62149099925
-
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
-
Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2009;11:92-100.
-
(2009)
Genet Med
, vol.11
, pp. 92-100
-
-
Grabowski, G.A.1
Kacena, K.2
Cole, J.A.3
-
25
-
-
33947687663
-
Fabry Disease Registry: Baseline medical characteristics in a cohort of 1213 males and females
-
Eng CM, Wilcox WR, Waldek S, et al. Fabry Disease Registry: Baseline medical characteristics in a cohort of 1213 males and females. J Inherit Metab Dis 2007;30:184-192.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
Wilcox, W.R.2
Waldek, S.3
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