α-галактозидаза Aдефицит α-галактозидазы Aпрогрессирование заболеваниястабилизация заболеванияболезнь Фабрипоказатели дисфункции органов1.1. Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase a deficiency Fabry disease. In: The metabolic and molecular bases of inherited disease. Vol. 3. 8th edn. Eds.: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle. New York: McGraw-Hill, 2001. Pp. 3733–3774.Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase a deficiency Fabry disease. In: The metabolic and molecular bases of inherited disease. Vol. 3. 8th edn. Eds.: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle. New York: McGraw-Hill, 2001. Pp. 3733–3774.2.2. Germain D.P. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI: 10.1186/1750-1172-5-30.Germain D.P. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI: 10.1186/1750-1172-5-30.3.3. Laney D.A., Peck D.S., Atherton A.M. et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2014;5(17):323–30. DOI: 10.1038/gim.2014.120.Laney D.A., Peck D.S., Atherton A.M. et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2014;5(17):323–30. DOI: 10.1038/gim.2014.120.4.4. Mehta A., Clarke J.T., Giugliani R. et al. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry outcome survey. J Med Genet 2009;46:548–52. DOI: 10.1136/jmg.2008.065904.Mehta A., Clarke J.T., Giugliani R. et al. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry outcome survey. J Med Genet 2009;46:548–52. DOI: 10.1136/jmg.2008.065904.5.5. Waldek S., Patel M.R., Banikazemi M. et al. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009;11:790–6. DOI: 10.1097/GIM.0b013e3181bb05bb.Waldek S., Patel M.R., Banikazemi M. et al. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009;11:790–6. DOI: 10.1097/GIM.0b013e3181bb05bb.6.6. Nakao S., Takenaka T., Maeda M. et al. An atypical variant of Fabry’s diseaseNakao S., Takenaka T., Maeda M. et al. An atypical variant of Fabry’s disease7.in men with left ventricular hypertrophy. N Engl J Med 1995;333:288–93. DOI: 10.1056/NEJM199508033330504.8.7. Sachdev B., Takenaka T., Teraguchi H. et al. Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407–11. PMID: 11914245.Sachdev B., Takenaka T., Teraguchi H. et al. Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407–11. PMID: 11914245.9.8. Wilcox W.R., Oliveira J.P., Hopkin R.J.Wilcox W.R., Oliveira J.P., Hopkin R.J.10.et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112–28. DOI: 10.1016/j.ymgme.2007.09.013.11.9. Deegan P.B., Baehner A.F., Barba Romero M.A. et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347–52. DOI: 10.1136/jmg.2005.036327.Deegan P.B., Baehner A.F., Barba Romero M.A. et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347–52. DOI: 10.1136/jmg.2005.036327.12.10. Lyon M. Gene activation in the X-chromosome of the mouse. Nature 1961;190:372–3.Lyon M. Gene activation in the X-chromosome of the mouse. Nature 1961;190:372–3.13.11. Eng C.M., German D.P., Banikazemi M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539–48. DOI: 10.109701.gim.0000237866.70357.c6.Eng C.M., German D.P., Banikazemi M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539–48. DOI: 10.109701.gim.0000237866.70357.c6.14.12. Schiffmann R., Kopp J.B., Austin H.A. 3rd et al. Enzyme replacement therapySchiffmann R., Kopp J.B., Austin H.A. 3rd et al. Enzyme replacement therapy15.in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743–9. PMID: 11386930.16.13. Eng C.M., Guffon N., Wilcox W.R. et al. Safety and efficacy of recombinant human α-galactosidase A – replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16. PMID: 11439963.Eng C.M., Guffon N., Wilcox W.R. et al. Safety and efficacy of recombinant human α-galactosidase A – replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16. PMID: 11439963.17.14. Giannini E.H., Mehta A.B., Hilz M.J.Giannini E.H., Mehta A.B., Hilz M.J.18.et al. A validated disease severity scoring system for Fabry disease. Mol Genet Metab 2009;99:289–90. PMID: 19951842.19.15. Whybra C., Kampmann C., Krummenauer F. et al. The Mainz 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. DOI: 10.1111/j.13990004.2004.00219.x.Whybra C., Kampmann C., Krummenauer F. et al. The Mainz 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. DOI: 10.1111/j.13990004.2004.00219.x.20.16. Hughes D.A., Ramaswami U., Barba Romero M.Á. et al. Age adjusting severity scores for Anderson–Fabry Disease. Mol Genet Metab 2010;101:219–27. DOI: 10.1016/j.ymgme.2010.06.002.Hughes D.A., Ramaswami U., Barba Romero M.Á. et al. Age adjusting severity scores for Anderson–Fabry Disease. Mol Genet Metab 2010;101:219–27. DOI: 10.1016/j.ymgme.2010.06.002.21.17. Delbecq A.L., van de Ven A.H., Gustaf- son D.H. Guidelines for conducting nominal group technique meetings. In: Group Techniques for Program Planning:Delbecq A.L., van de Ven A.H., Gustaf- son D.H. Guidelines for conducting nominal group technique meetings. In: Group Techniques for Program Planning:22.A Guide to Nominal Group and Delphi Processes. Eds.: A.L. Delbecq, A.H. van de Ven, D.H. Gustafson. Middleton,23.WI: Greenbriar Press, 1986.24.18. Likert R.A. A technique for the measurement of attitudes. Arch Psychol 1932;140:5–55.Likert R.A. A technique for the measurement of attitudes. Arch Psychol 1932;140:5–55.25.19. Rombach S.M., Smid B.E., Linthorst G.E. et al. 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: 10.1007/s10545-014-9677-8.Rombach S.M., Smid B.E., Linthorst G.E. et al. 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: 10.1007/s10545-014-9677-8.26.20. Mehta A., Beck M., Eyskens F. et al. Fabry disease: a review of current management strategies. QJM 2010;103:641–59. PMID: 20660166.Mehta A., Beck M., Eyskens F. et al. Fabry disease: a review of current management strategies. QJM 2010;103:641–59. PMID: 20660166.