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Список литературы

  1. Neufeld E., Muenzer J. The mucopolysaccharidoses// In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Basis of Inherited Disease. 8 ed. New York. NY: McGraw-Hill. 2001. P.3421-52.
  2. Scarpa M., Almassy Z., Beck M. et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease// Orphanet J Rare Dis. 2011. V.6. P.72-7.
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  9. Barbier A.J., Bielefeld B., Whiteman D.A. et al. The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase// Mol Genet Metab. 2013. V.110. №3. P.303–10.
  10. Kim C., Seo J., Chung Y., Ji H.J., Lee J., Sohn J. Comparative study of idursulfase beta and idursulfase in vitro and in vivo// J. Hum. Genet. 2017. V.62. P.167–74.
  11. Miebach E. Management of infusion-related reactions to enzyme replacement therapy in a cohort of patients with mucopolysaccharidosis disorders// Int J Clin Pharmacol Ther. 2009. V.47. №1. P.100–6.
  12. Wraith J.E., Scarpa M., Beck M. et al.  Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy// Eur J Pediatr. 2008. V.167. P.267-77.
  13. Sampayo-Cordero M., Miguel-Huguet B., Pardo-Mateos A. Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases// Orphanet J Rare Dis. 2019. V.14. №1. P.230. 
  14. Bradley L., Haddow H., Palomaki G. Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review// Genet Med. 2017. V.19. P.1187–1201.
  15. Da Silva E. M. K. et al. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome) //Cochrane Database of Systematic Reviews.  2016. № 2.
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  17. Rezende M. M. et al. Brazilian reference values for MPS II screening in dried blood spots—A fluorimetric assay //Clinical biochemistry. 2014. V. 47.  № 13-14. P. 1297-9.
  18. Human Gene Mutations Database. Qiagen HGMD Professional
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  22. Миронов С.П., Колесов С.В., Переверзев В.С., Колбовский Д.А., Кулешов А.А., Ветрилэ М.С., Казьмин А.И. Опыт хирургического лечения краниовертебрального стеноза у пациентов с мукополисахаридозом I, II, VI типов// Хирургия позвоночника. 2018. Т.15. №4. С.32-40.
  23. Williams N., Challoumas D., Eastwood D. M. Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses? // Journal of Children"s Orthopaedics. 2017. V.11. №4. P.289-97.
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  26. Remondino R. G. et al. Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases //Spine deformity. 2019. V. 7. №. 2. P. 298-303.
  27. Kwon JY, Ko K, Sohn YB, et al. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am J Med Genet A. 2011;155A:1329–1335

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