Fermentozamestitel'naya terapiya u detey s mukopolisakharidozami v Rossii: osobennosti organizatsii, vnedrenie,perspektivy


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Abstract

This article summarizes the experience of the introduction of enzyme replacement therapy (ERT) at the Research Center for Children’s Health RAMS; a model of organization of multi-stage comprehensive care for children with mucopolysaccharidosis (MPS) is presented.

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References

  1. Козлова С.И., Демикова Н.С. Наследственные синдромы и медико-генетическое консультирование. М., 2007. С. 169-70.
  2. Коннет Л. Джонс. Наследственные синдромы по Дэвиду Смиту. М., 2011.
  3. Hopkin RJ, Grabowski GA. Lysosomal storage diseases. In: Fauci A, Kasper D, Braunwald E, et al, eds. Harrison's Principles of Internal Medicine. 17th ed. New York, NY: McGraw Hill, 2005:2452-56.
  4. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, ed. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 2001:3421-52.
  5. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R, et al. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2001;58:127-38.
  6. Peters C, Shapiro EG, Krivit W. Hurler syndrome: past, present, and future. J Pediatr 1998;133(1):7-9.
  7. Marucha J, Jurecka A, Syczewska M, et al. Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatrica 2012; 101:183-8.
  8. Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995;72(3):263-67.
  9. Valayannopoulos V, Nicely H, Harmatz P, et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5.
  10. Muenzer J, Beck M, Eng СM, et al. Multidisciplinary Management of Hunter Syndrome. Pediatrics December 2009;124:е1228-39.
  11. Muenzer J, Wraith J E, Clarke LA. International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: Management and Treatment Guidelines. Pediatrics January 2009;123:19-29.
  12. Thomas JA, Beck M, Clarke JT, et al. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis 2010;33:421-27.
  13. Karageorgos L, Brooks D, Harmatz P, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab 2007;90;164-70.
  14. Wraith JE, Beck M, Lane R, et al. Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase). Pediatrics 2007;120:e37-46.
  15. Burton BK, et al. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European journal of pediatrics 2012;171(4): 631-39. (Epub. 2012 Mar 01).
  16. Giugliani R, Harmatz P, Wraith JE. Management Guidelines for Mucopolysaccharidosis VI. Pediatrics 2007;120(2):405-18.
  17. Holt JB, Poe MD, Escolar ML. Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II. Pediatrics 2011;127(5):e1258-65.
  18. Clarke LA, Wraith JE, Beck M, et al. Longterm Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I. Pediatrics 2009; 123:1 229-40.

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