Список литературы

1. Клюшников С.А. Болезнь Ниманна-Пика, тип C - лизосомная патология с нарушением внутриклеточного транспорта липидов//Нервные болезни. 2014. Т. 1. С. 4 - 14.

2. Руденская Г.Е., Букина Т.М., Захарова Е.Ю. Болезнь Ниманна-Пика, тип C: взрослая форма с преобладанием психических расстройств//Журнал неврологии и психиатрии им. С.С. Корсакова. 2011. Т. 7. С. 71 - 5.

3. Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков диагностика и подходы к лечению//Издательство "Литтерра". 2018. С. 217 - 225.

4. Михайлова С.В., Захарова Е.Ю., Губина Е.Б., Савин Д.А., Ильина Е.С., Пилия С.В., Печатникова Н.Л., Бологов А.А. Болезнь Ниманна-Пика тип C: молекулярные механизмы патогенеза и подходы к лечению. Эффективная фармакотерапия//Педиатрия, спецвыпуск "Неврология". 2011. С. 16 - 20.

5. Михайлова С.В., Захарова Е.Ю., Дегтярева А.В., Печатникова Н.Л., Какаулина В.С., Полякова Н.А. Болезнь Ниманна-Пика типа C у детей//Медицинская генетика. 2013. N 9. С. 25 - 30.

6. Намазова-Баранова Л.С. Комментарии к статье "Рекомендации по диагностике и лечению болезни Ниманна-Пика тип C"//Педиатрическая фармакология. 2010. Т. 7. N 1. С. 15 - 24.

7. Руденская Г.Е., Захарова Е.Ю., Букина Т.М., Волкова Э.Ю., Козлов А.С. Болезнь Ниманна-Пика, тип C (ювенильный дистонический липидоз)//Журн. невр. психиатр. им. С.С. Корсакова. 2008. N 5. С. 76 - 9.

8. Patterson M.C., Hendriksz C.J., Walterfang M. et al. Niemann-Pick disease type C: An update of on behalf of the NP-C Guidelines Working Group//Mol Genet Metab. 2012. V. 106. N 3. P. 330 - 44.

9. Pineda M., Wraith J.E., Sedel F. et al. Miglustat in patients with Niemann Pick disease Type C (NP-C): multicenter observational retrospective cohort study//Mol Gen Metab. 2009. V. 98. N 3. P. 243 - 92009

10. Wraith J.E., Vecchio D., Jaklin E., Abel L., Chadha-Boreham H., Luzy C., Giorgino R., Patterson M.C. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial//Molec Gen. 2010. V. 99. N 4. P. 351 - 7.

11. Patterson M.C., Vecchio D., Prady H., Abel L., Wraith J.E. Miglustat for treatment of Niemann-Pick type C disease: a randomized controlled study//Lancet Neurol. 2007. V. 6. N 9. P. 765 - 72.

12. Vanier M.T., Millat G. Niemann-Pick disease type C//Clin. Genet. 2003. V. 64. P. 269 - 81.

13. Vanier M.T. Niemann-Pick disease type C//Orphanet J Rare Dis. 2010. V. 5. P. 16.

14. Imrie J., Vijayaraghaven S., Whitehouse C. et al. Niemann-Pick disease type C in adults//J. Inherit. Metab. Dis. 2002. V. 25. P. 491 - 500.

15. Sevin M., Lesca G., Baumann N. et al., The adult form of Niemann-Pick disease type C//Brain. 2007. V. 130. P. 120 - 133.

16. Scheel M., Abegg M., Lanyon L.J., Mattman A., Barton J.J. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient//Mol Genet Metab. 2010. V. 99. N 3. P. 291 - 5.

17. Kelly D.A., Portmann B., Mowat A.P., Sherlock S., Lake B.D. et al. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease//J. Pediatr. 1993. V. 123. P. 242 - 7.

18. Belmatoug N. et al. Gastrointestinal disturbances and their management in miglustat-treated patients//Journal of inherited metabolic disease. - 2011. - T. 34. - N. 5 - C. 191

19. Geberhiwot T., Moro A., Dardis A. et al. Consensus clinical management guidelines for Niemann-Pick disease type C//Orphanet J Rare Dis. 2018. V. 13. P. 50.

20. Patterson M.C. et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C//An update. Neurol Clin Pract. 2017. V. 7. P. 1 - 13.

21. Pineda M. et al Miglustat in Niemann-Pick type C disease: review//Orphanet Journal of rare diseases. 2018. V. 13. P. 140.

22. Инструкция по медицинскому применению препарата Завеска ЛСР-008892/09-220409.

23. Patterson M.C., Mengel E., Wijburg F.A. et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry//Orphanet J Rare Dis. 2013. V. 8. P. 12.

24. Walterfang M., Fietz M., Fahey M. et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood//J Neuropsychiatry Clin Neurosci. 2006. V. 18. P. 158 - 70.

25. Wijburg F.A., Sedel F., Pineda M. et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C//Neurology. 2012. V. 78. P. 1560 - 7.

26. Abel L.A., Bowman E.A., Velakoulis D. et al. Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures//PLoS One. 2012. V. 7. P. e50947.

27. Patterson M.C., Mengel E., Vanier M.T. et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study//Orphanet J Rare Dis. 2015. V. 10. P. 65.

28. Bonnot O., 00000001.wmz H.H., Sedel F., Tordjman S., Cohen D., Walterfang M. Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review//Orphanet J Rare Dis. 2014. V. 9. P. 65.

29. Fecarotta S., Amitrano M., Romano A. et al. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat//Am J Med Genet A. 2011. V. 155A. P. 540 - 7.

30. Stampfer M. et al. Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators//Orphanet journal of rare diseases. 2013. V. 8. N 1. P. 35.

31. Imrie J., Heptinstall L., Knight S., Strong K. Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database//BMC Neurol. 2015. V. 15. P. 257. doi: 10.1186/s12883-015-0511-1.

32. Millat G. et al. Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop//The American Journal of Human Genetics. 2001. V. 68. N 6. P. 1373 - 85.

33. Mashima R. et al. Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals//Molecular genetics and metabolism reports. 2018. V. 15. P. 90 - 5.

34. Walterfang M. et al. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat//Orphanet journal of rare diseases. 2012. V. 7. N 1. P. 76.

35. Evans W. R. H. et al. Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases//Wellcome open research. 2017. V. 2. P. 75.