-
1
-
-
0033730925
-
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease
-
COI: 1:CAS:528:DC%2BD3cXnsVGntrY%3D, PID: 11042029
-
Altarescu G, Schiffmann R, Parker CC et al (2000) Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis 26:285–290
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 285-290
-
-
Altarescu, G.1
Schiffmann, R.2
Parker, C.C.3
-
2
-
-
84911999718
-
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study
-
Anderson LJ, Wyatt KM, Henley W et al (2014) Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 27(6):969–978. doi:10.1007/s10545-014-9717-4
-
(2014)
J Inherit Metab Dis
, vol.27
, Issue.6
, pp. 969-978
-
-
Anderson, L.J.1
Wyatt, K.M.2
Henley, W.3
-
3
-
-
84875884077
-
Fabry disease in children: agalsidase-beta enzyme replacement therapy
-
COI: 1:CAS:528:DC%2BC3sXosFKktrc%3D, PID: 22880956
-
Borgwardt L, Feldt-Rasmussen U, Rasmussen AK, Ballegaard M, Meldgaard Lund A (2013) Fabry disease in children: agalsidase-beta enzyme replacement therapy. Clin Genet 83:432–438
-
(2013)
Clin Genet
, vol.83
, pp. 432-438
-
-
Borgwardt, L.1
Feldt-Rasmussen, U.2
Rasmussen, A.K.3
Ballegaard, M.4
Meldgaard Lund, A.5
-
4
-
-
0034614125
-
Clinical features of and recent advances in therapy for Fabry disease
-
COI: 1:STN:280:DC%2BD3M%2Fms1Gntg%3D%3D, PID: 11105184
-
Brady RO, Schiffmann R (2000) Clinical features of and recent advances in therapy for Fabry disease. JAMA 284:2771–2775
-
(2000)
JAMA
, vol.284
, pp. 2771-2775
-
-
Brady, R.O.1
Schiffmann, R.2
-
5
-
-
0014216741
-
Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency
-
COI: 1:STN:280:DyaF2s7jsFWltQ%3D%3D, PID: 6023233
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163–1167
-
(1967)
N Engl J Med
, vol.276
, 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
-
6
-
-
0036122659
-
Natural history of Fabry renal Disease: influence of alpha- galactosidase A activity and genetic mutations on clinical course
-
COI: 1:CAS:528:DC%2BD38Xis1alsbc%3D
-
Branton MH, Schiffmann R, Sabnis SG et al (2002) Natural history of Fabry renal Disease: influence of alpha- galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122–138
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
-
7
-
-
84902826499
-
Decline in estimated glomerular filtration rate and subsequent risk of end-stage renal disease and mortality
-
PID: 24892770
-
Coresh J, Turin TC, Matsushita K et al (2014) Decline in estimated glomerular filtration rate and subsequent risk of end-stage renal disease and mortality. JAMA 311:2518–2531
-
(2014)
JAMA
, vol.311
, pp. 2518-2531
-
-
Coresh, J.1
Turin, T.C.2
Matsushita, K.3
-
9
-
-
84945436030
-
-
EMA Fabrazyme: EPAR - Product Information In Editor ed.^eds. Book Fabrazyme: EPAR - Product Information. Accessed 27 July 2014
-
EMA Fabrazyme: EPAR - Product Information In Editor ed.^eds. Book Fabrazyme: EPAR - Product Information. http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000370/WC500020547.pdf. Accessed 27 July 2014
-
-
-
-
10
-
-
84945444047
-
-
EMA Replagal: EPAR - Product Information. In Editor ed.^eds. Book Replagal: EPAR - Product Information. Accessed 24 July 2014
-
EMA Replagal: EPAR - Product Information. In Editor ed.^eds. Book Replagal: EPAR - Product Information. http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000369/WC500053612.pdf. Accessed 24 July 2014
-
-
-
-
11
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies
-
COI: 1:CAS:528:DC%2BD3MXit1aksr0%3D, PID: 11179018
-
Eng CM, Banikazemi M, Gordon RE et al (2001) A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711–722
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
-
12
-
-
84945445940
-
-
FDA FABRAZYME, BLA no. 103979 In Editor ed.^eds. Book FABRAZYME, BLA no. 103979. Accessed 24 July 2014
-
FDA FABRAZYME, BLA no. 103979 In Editor ed.^eds. Book FABRAZYME, BLA no. 103979. http://www.accessdata.fda.gov/drugsatfda_docs/label/2010/103979s5135lbl.pdf. Accessed 24 July 2014
-
-
-
-
13
-
-
84891371385
-
A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease
-
COI: 1:CAS:528:DC%2BC3sXot1Gjt7o%3D, PID: 23702393
-
Hughes DA, Deegan PB, Milligan A et al (2013) A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease. Mol Genet Metab 109:269–275
-
(2013)
Mol Genet Metab
, vol.109
, pp. 269-275
-
-
Hughes, D.A.1
Deegan, P.B.2
Milligan, A.3
-
14
-
-
0037038234
-
Clinical practice. Nondiabetic kidney disease
-
PID: 12421894
-
Levey AS (2002) Clinical practice. Nondiabetic kidney disease. N Engl J Med 347:1505–1511
-
(2002)
N Engl J Med
, vol.347
, pp. 1505-1511
-
-
Levey, A.S.1
-
15
-
-
84897573878
-
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
-
COI: 1:CAS:528:DC%2BC2cXksFWmsw%3D%3D, PID: 24388678
-
Lin HY, Huang YH, Liao HC et al (2014) Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa. J Chin Med Assoc 77:190–197
-
(2014)
J Chin Med Assoc
, vol.77
, pp. 190-197
-
-
Lin, H.Y.1
Huang, Y.H.2
Liao, H.C.3
-
16
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
COI: 1:CAS:528:DC%2BD28XotFWqs7c%3D, PID: 16912578
-
Muenzer J, Wraith JE, Beck M et al (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465–473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
17
-
-
84904168429
-
Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease
-
COI: 1:STN:280:DC%2BC3svgtlyqsw%3D%3D, PID: 23430546
-
Pisani A, Spinelli L, Visciano B et al (2013) Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease. JIMD Rep 9:41–48
-
(2013)
JIMD Rep
, vol.9
, pp. 41-48
-
-
Pisani, A.1
Spinelli, L.2
Visciano, B.3
-
18
-
-
0242487692
-
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
-
PID: 14505049
-
Ries M, Ramaswami U, Parini R et al (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162:767–772
-
(2003)
Eur J Pediatr
, vol.162
, pp. 767-772
-
-
Ries, M.1
Ramaswami, U.2
Parini, R.3
-
19
-
-
20344382763
-
Pediatric Fabry disease
-
PID: 15713906
-
Ries M, Gupta S, Moore DF et al (2005) Pediatric Fabry disease. Pediatrics 115:e344–e355
-
(2005)
Pediatrics
, vol.115
, pp. e344-e355
-
-
Ries, M.1
Gupta, S.2
Moore, D.F.3
-
20
-
-
33845884323
-
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
-
COI: 1:STN:280:DC%2BD28jjvFyrtQ%3D%3D, PID: 17105746
-
Ries M, Kim HJ, Zalewski CK et al (2007) Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 130:143–150
-
(2007)
Brain
, vol.130
, pp. 143-150
-
-
Ries, M.1
Kim, H.J.2
Zalewski, C.K.3
-
21
-
-
84904156358
-
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages
-
COI: 1:CAS:528:DC%2BC2cXnsFCltLs%3D, PID: 24492980
-
Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE (2014) Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 37:341–352
-
(2014)
J Inherit Metab Dis
, vol.37
, pp. 341-352
-
-
Rombach, S.M.1
Smid, B.E.2
Linthorst, G.E.3
Dijkgraaf, M.G.4
Hollak, C.E.5
-
22
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
COI: 1:CAS:528:DC%2BD3cXjvVGhsQ%3D%3D, PID: 10618424
-
Schiffmann R, Murray GJ, Treco D et al (2000) Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 97:365–370
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
23
-
-
0035816007
-
Enzyme replacement therapy in fabry disease: a randomized controlled trial
-
COI: 1:STN:280:DC%2BD3MzltVCgsg%3D%3D, PID: 11386930
-
Schiffmann R, Kopp JB, Austin HA 3rd et al (2001) Enzyme replacement therapy in fabry disease: a randomized controlled trial. JAMA 285:2743–2749
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
24
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
COI: 1:CAS:528:DC%2BD2cXht1Cjuw%3D%3D, PID: 14639584
-
Schiffmann R, Floeter MK, Dambrosia JM et al (2003) Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28:703–710
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
-
25
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
-
COI: 1:CAS:528:DC%2BD28Xmsl2isw%3D%3D, PID: 16204287
-
Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO (2006) Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21:345–354
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
26
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
-
COI: 1:CAS:528:DC%2BD2sXls1Gksrw%3D, PID: 17409308
-
Schiffmann R, Askari H, Timmons M et al (2007) Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 18:1576–1583
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1576-1583
-
-
Schiffmann, R.1
Askari, H.2
Timmons, M.3
-
27
-
-
84890084688
-
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
-
COI: 1:CAS:528:DC%2BC3sXhvFCrurbN, PID: 23680766
-
Schiffmann R, Ries M, Blankenship D et al (2013) Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. Genet Med 15:983–989
-
(2013)
Genet Med
, vol.15
, pp. 983-989
-
-
Schiffmann, R.1
Ries, M.2
Blankenship, D.3
-
28
-
-
84897573302
-
Outcomes of patients treated through the Canadian Fabry disease initiative
-
COI: 1:CAS:528:DC%2BC2cXis1CmsLY%3D, PID: 24534763
-
Sirrs SM, Bichet DG, Casey R et al (2014) Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab 111:499–506
-
(2014)
Mol Genet Metab
, vol.111
, pp. 499-506
-
-
Sirrs, S.M.1
Bichet, D.G.2
Casey, R.3
-
29
-
-
84871906107
-
Agalsidase benefits renal histology in young patients with Fabry disease
-
COI: 1:CAS:528:DC%2BC3sXhsFSjurY%3D, PID: 23274955
-
Tondel C, Bostad L, Larsen KK et al (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol: JASN 24:137–148
-
(2013)
J Am Soc Nephrol: JASN
, vol.24
, pp. 137-148
-
-
Tondel, C.1
Bostad, L.2
Larsen, K.K.3
-
30
-
-
84920512558
-
Clinical course of patients with Fabry disease who were switched from agalsidase-beta to agalsidase-alpha
-
COI: 1:CAS:528:DC%2BC2cXhslemu77J, PID: 24651606
-
Tsuboi K, Yamamoto H (2014) Clinical course of patients with Fabry disease who were switched from agalsidase-beta to agalsidase-alpha. Genet Med 16:766–772
-
(2014)
Genet Med
, vol.16
, pp. 766-772
-
-
Tsuboi, K.1
Yamamoto, H.2
-
31
-
-
84890880686
-
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
-
PID: 23922385
-
van der Tol L, Smid BE, Poorthuis BJ et al (2014) A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51:1–9
-
(2014)
J Med Genet
, vol.51
, pp. 1-9
-
-
van der Tol, L.1
Smid, B.E.2
Poorthuis, B.J.3
-
32
-
-
84883742110
-
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
-
COI: 1:CAS:528:DC%2BC3sXhsVCgurnK, PID: 23586858
-
Weidemann F, Niemann M, Stork S et al (2013) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274:331–341
-
(2013)
J Intern Med
, vol.274
, pp. 331-341
-
-
Weidemann, F.1
Niemann, M.2
Stork, S.3
-
33
-
-
84901311103
-
Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch
-
COI: 1:CAS:528:DC%2BC2cXosVyltLo%3D, PID: 24556354
-
Weidemann F, Kramer J, Duning T et al (2014) Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol 25:837–849
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 837-849
-
-
Weidemann, F.1
Kramer, J.2
Duning, T.3
-
34
-
-
40849094670
-
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
-
COI: 1:CAS:528:DC%2BD1cXjtl2ntLo%3D, PID: 18346516, 570 e561
-
Wraith JE, Tylki-Szymanska A, Guffon N et al (2008) Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 152:563–570, 570 e561
-
(2008)
J Pediatr
, vol.152
, pp. 563-570
-
-
Wraith, J.E.1
Tylki-Szymanska, A.2
Guffon, N.3
|