Long-term Effectiveness of Enzyme Replacement Therapy in Fabry Disease |
Kim, Ja Hye
(Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Cho, Ja Hyang (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) |
1 | Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI ScienceOn |
2 | Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2013;22:555-64. DOI ScienceOn |
3 | Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry Disease in Stroke Patients- A Systematic Review and Meta-analysis. J Stroke Cerebrovasc Dis 2013. |
4 | Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92. DOI ScienceOn |
5 | Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 2013;8:47. DOI |
6 | Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 1998;19:887-91. DOI |
7 | Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48. DOI ScienceOn |
8 | Mohrenschlager M, Braun-Falco M, Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 2003; 4:189-96. DOI |
9 | Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. 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 2014;37:341-52. DOI ScienceOn |
10 | Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 2013;274:331-41. DOI ScienceOn |
11 | Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102-11. DOI ScienceOn |
12 | Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130:367-73. DOI ScienceOn |
13 | Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 2009;11:441-9. DOI ScienceOn |
14 | Anderson LJ, Wyatt KM, Henley W, Nikolaou V, Waldek S, Hughes DA, et al. Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 2014. |
15 | Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96. DOI ScienceOn |
16 | Schiffmann R, Martin RA, Reimschisel T, Johnson K, Castaneda V, Lien YH, et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr 2010;156:832-7, 7.e1. DOI ScienceOn |
17 | Choi JH, Cho YM, Suh KS, Yoon HR, Kim GH, Kim SS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008;23:243-50. DOI ScienceOn |