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Мукополисахаридоз тип VI

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. Giugliani R., Federhen A., Rojas M.V. et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment// Genet Mol Biol. 2010. V.33. №4. P.589–604.
  3. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders// JAMA. 1999.V.281. P.249–54.
  4. Khan S. A., Peracha H., Ballhausen D., Wiesbauer A., Rohrbach M., Gautschi M., Mason R. W., Giugliani R., Suzuk Y., Orii K. E., Orii T., Tomatsu S. Epidemiology of mucopolysaccharidoses// Molec. Genet. Metab. 2017. V. 121. P. 227-40.
  5. Costa-Motta F.M., Bender F., Acosta A., Abé-Sandes K., Machado T., Bomfim T., Boa Sorte T., da Silva D., Bittles A., Giugliani R., Leistner-Segal S. A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity// Hum Hered. 2014. V.77. №1–4. P.189–96.
  6. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI// Orphanet J Rare Dis. 2010. V.5. P.5. doi:10.1186/1750-1172-5-5.
  7. Giugliani R., Lampe C., Guffon N. et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study// American Journal of Medical Genetics, Part A. 2014. V. 164. №8. P.1953–64.
  8. Horovitz D. D. G., Magalhães T. de S. P. C., Costa A. P. et al. Spinal cord compression in young children with type VI mucopolysaccharidosis// Molecular Genetics and Metabolism. 2011.V.104. №3. P.295–300.
  9. White K. K., Harmatz P. Orthopedic management of mucopolysaccharide disease// Journal of Pediatric Rehabilitation Medicine. 2010. V. 3. №1. P. 47–56.
  10. Williams N., Challoumas D., and 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.
  11. Моисеев С. В., Новиков П. И., Мешков А. Д., Фомин В. В. Мукополисахаридоз VI типа у взрослых// Клиническая фармакология и терапия. 2017. Т.26. №1. С. 1–7.
  12. Golda A., Jurecka A., Tylki-Szymanska A. Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)// International Journal of Cardiology. 2012. V.158. №1. P.6–11.
  13. Lachman R. S., Burton B. K., Clarke L. A. et al. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose//Skeletal Radiology. 2014. V.43. №3. P.359–69.
  14. Wood T., Bodamer O. A., Burin M. G. et al. Expert recommendations for the laboratory diagnosis of MPS VI// Molecular Genetics and Metabolism. 2012. V.106. №1. P. 73–82.
  15. Human Gene Mutations Database. Qiagen HGMD Professional
  16. Giugliani P. H., Wraith J. E. Management Guidelines for Mucopolysaccharidosis VI// Pediatrics. 2007. V.120. №2. P.405-18.
  17. Hendriksz C. J. et al. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) //Journal of inherited metabolic disease. 2013. V. 36. №2. P. 373-84.
  18. Giugliani R., Herber S., Pinto L. L. D. C., Baldo G. Therapy for Mucopolysaccharidosis VI: (Maroteaux-Lamy Syndrome) Present Status and Prospects// Pediatric Endocrinology Reviews: Diabetes Nutrition Metabolism Genetics. 2014.V.12. Suppl. 1. P.152-58.
  19. Brunelli M.J., Atallah Á.N., da Silva EMK. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI// Cochrane Database of Systematic Reviews. 2016. Issue 3. Art. No.: CD009806.
  20. Harmatz P., Whitley C.B., Waber L. et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)// J Pediatr. 2000. V.144. №5. P.574-80.
  21. Harmatz P., Giugliani R., Ida I. V., Guffon N., et all. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase// Molecular Genetics and Metabolism. 2008. V.94. №4. P.469–75.
  22. Swiedler S. J., Beck M., Bajbouj M. et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)// American Journal of Medical Genetics. 2005. V.134 A(2). P.144–50.
  23. Brands M. M. G., Güngör D., van den Hout J. M. P. et al. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey// Journal of Inherited Metabolic Disease. 2015. V.38. №2. P.323–31.
  24. Kampmann C., Lampe C., Whybra-Trümpler C., Wiethoff C. M., Mengel E., Arash L., Beck M., Miebach E. Mucopolysaccharidosis VI: Cardiac involvement and the impact of enzyme replacement therapy// Journal of Inherited Metabolic Disease. 2014. V.37. №2. P.269–76.
  25. Lampe C., Müller-Forell W. Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery// J Inherit Metab Dis. 2013. V.36. №6. P.1005-13.
  26. Lampe C., Lampe C., Schwarz M., Müller-Forell W., Harmatz P., Mengel E. Craniocervical decompression in patients with mucopolysaccharidosis VI: Development of a scoring system to determine indication and outcome of surgery// Journal of Inherited Metabolic Disease. 2013. V.36. №6. P.1005–13.
  27. Leal G. N., De Paula A. C., Leone C., Kim C. A. Echocardiographic study of pediatric patients with mucopolysaccharidosis//Cardiology in the Young. 2010. V. 20. №3. P. 254–61.
  28. Moreira G. A., Kyosen S. O., Patti C. L., Martins A. M., Tufik S. Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center// Sleep and Breathing. 2014. V.18. №4. P.791–97.
  29. Valayannopoulos V., Wijburg F.A. Therapy for the mucopolysaccharidoses// Rheumatology (Oxford). 2011. V.50. №5. P.49-59.
  30. 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. C.32-40.
  31. Miebach E. Management of infusion-related reactions to enzyme replacement therapy in a cohort of patients with mucopolysaccharidosis disorders //International journal of clinical pharmacology and therapeutics. 2009. V. 47. P. S100-6.
  32. Yuen A. et al. Carpal tunnel syndrome in children with mucopolysaccaridoses //Journal of child neurology. 2007. V. 22. № 3. P. 260-3.
  33. Alden T. D. et al. Surgical management of neurological manifestations of mucopolysaccharidosis disorders //Molecular Genetics and Metabolism. 2017. V. 122. P. 41-8.
  34. White K. K. Orthopaedic surgery for mucopolysaccharidosis //Current Orthopaedic Practice. 2012. V. 23. № 5. P. 394-9.

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