دورية أكاديمية
Опыт ведения пациентов с болезнью Фабри после изменения дозы или смены препарата в процессе проведения ферментозаместительной терапии
| العنوان: | Опыт ведения пациентов с болезнью Фабри после изменения дозы или смены препарата в процессе проведения ферментозаместительной терапии |
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| المؤلفون: | F. Weidemann, J. Krämer, T. Duning, M. Lenders, S. Canaan-Kühl, A. Krebs, H. G. González, C. Sommer, N. Üçeyler, M. Niemann, S. Störk, M. Schelleckes, S. Reiermann, J. Stypmann, S.-M. Brand, C. Wanner, E. Brand |
| المصدر: | Neuromuscular Diseases; Том 5, № 3 (2015); 15-30 ; Нервно-мышечные болезни; Том 5, № 3 (2015); 15-30 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2015-5-3 |
| بيانات النشر: | ABV-Press |
| سنة النشر: | 2015 |
| المجموعة: | Neuromuscular Diseases (E-Journal) / Нервно-мышечные болезни |
| مصطلحات موضوعية: | ферменто- заместительная терапия, болезни накопления, лизомальные болезни, Х-сцепленная лизосомальная болезнь, глоботри- аозилцерамид, GL-3, Gb3, гликосфинголипиды, кардиомиопатия, почечная недостаточность, микроальбуминурия |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | Russian |
| العلاقة: | https://nmb.abvpress.ru/jour/article/view/120/115Test; Desnick R., Ionnou Y., Eng C. Fabry disease: alpha galactosidase A deficiency. In: The metabolic and molecular bases of inherited disease. Ed. by Scriver C., Beaudet A., Sly W., Valle D., New York, McGraw-Hill, 1995, pp. 2741– 2784.; Zarate Y.A., Hopkin R.J. Fabry’s disease. Lancet 2008;372:1427–35.; Desnick R.J., Brady R., Barranger J. et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338–46.; Banikazemi M., Bultas J., Waldek S. et al. Fabry Disease Clinical Trial Study Group: Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med 2007;146:77–86.; Eng C.M., Guffon N., Wilcox W.R. et al. International Collaborative FabryDisease Study Group: Safety and efficacy of recombinant human alpha-galactosidase A – replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16.; Hughes D.A., Elliott P.M., Shah J. et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebocontrolled clinical trial of agalsidase alfa. Heart 2008;94:153–8.; Mehta A., Beck M., Elliott P. et al. Fabry Outcome Survey investigators: Enzyme replacement therapy with agalsidase alfa in patients with Fabry’s disease: An analysis of registry data. Lancet 2009;374:1986–96.; Schiffmann R., Kopp J.B., Austin H.A. 3rd et al. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001;285:2743–9.; Wraith J.E., 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;152:563–70.; Tsuboi K., Yamamoto H. Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Genet Med 2012;14:779–86.; Linthorst G.E., Germain D.P., Hollak C.E. et al. European Medicines Agency: Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab 2011;102:99–102.; Pisani A., Spinelli L., Visciano B. et al. Effects of switching from agalsidase Betato agalsidase alfa in 10 patients with andersonfabry disease. JIMD Rep 2013;9:41–8.; Smid B.E., Rombach S.M., Aerts J.M. et al. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 2011;6:69.; 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;108:1299–301.; Weidemann F., Niemann M., Breunig F. et al. Long-termeffects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment. Circulation 2009;119:524–9.; Feriozzi S., Torras J., Cybulla M. et al. FOS Investigators: The effectiveness of longterm agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 2012;7:60–9.; Germain D.P., 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;18:1547–57.; West M., Nicholls K., Mehta A. et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009;20:1132–9.; Najafian B., Svarstad E., Bostad L. et al. Progressive podocyte injury and globotriao sylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 2011;79:663–70.; Gansevoort R.T., de Jong P.E. The case for using albuminuria in staging chronic kidney disease. 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Nat Rev Nephrol 2012;8:293–300.; Levey A.S., Stevens L.A., Schmid C.H. et al. CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration): A new equation to estimate glomerular filtration rate. Ann Intern Med 2009;150:604–12.; Von Korff M., Ormel J., Keefe F.J., Dworkin S.F. Grading the severity of chronic pain. Pain 1992;50:133–49.; Sommer C., Richter H., Rogausch J.P. et al. A modified score to identify and discriminate neuropathic pain: A study on the German version of the Neuropathic Pain Symptom Inventory (NPSI). BMC Neurol 2011;11:104.; Rolke R., Baron R., Maier C. et al. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): Standardized protocol and reference values. Pain 2006;123:231–43.; Fukuda K., Straus S.E., Hickie I. et al. International Chronic Fatigue Syndrome Study Group: The chronic fatigue syndrome: A comprehensive approach to its definition and study. Ann Intern Med 1994;121:953–9.; Giannini E.H., Mehta A.B , Hilz M.J. et al. A validated disease severity scoring system for Fabry disease. Mol Genet Metab 2010;99:283–90.; Whybra C., Kampmann C., Krummenauer F. et al. Severity Score Index: A new instrument for quantifying the Anderson- Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299–307.; https://nmb.abvpress.ru/jour/article/view/120Test; undefined |
| الإتاحة: | https://doi.org/10.17650/2222-8721-2015-5-3Test https://nmb.abvpress.ru/jour/article/view/120Test |
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| رقم الانضمام: | edsbas.493B59CD |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |