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Болезнь Ниманна-Пика тип С

Список литературы

  1. Клюшников С.А. Болезнь Ниманна-Пика, тип С -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 С: 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 С: молекулярные механизмы патогенеза и подходы к лечению. Эффективная фармакотерапия// Педиатрия, спецвыпуск «Неврология». 2011. C.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 С у детей// Медицинская генетика. 2013. №9. C.25-30.
  6. Намазова-Баранова Л.С. Комментарии к статье «Рекомендации по диагностике и лечению болезни Ниманна-Пика тип С»// Педиатрическая фармакология. 2010. Т.7. №1. С.15-24.
  7. Руденская Г.Е., Захарова Е.Ю., Букина Т.М., Волкова Э.Ю., Козлов А.С. Болезнь Ниманна-Пика, тип С (ювенильный дистонический липидоз)// Журн.невр.психатр.им. С.С. Корсакова. 2008. №5. C.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. №3. P.330-44.
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  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. №4. P.351-7.
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  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., Klünemann 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.
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  41. Garver WS, Jelinek D, Meaney FJ, et al. The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res. 2010;51(2):406-415. doi:10.1194/jlr. P000331
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