Список литературы

Поставить закладку

Клюшников С.А. Болезнь Ниманна-Пика, тип С-лизосомная патология с нарушением внутриклеточного транспорта липидов// Нервные болезни.2014. Т.1. С. 4-14.
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.
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.
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.
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.
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.
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.
Patterson M.C., Hendriksz C.J., Walterfang M. et al. Niemann–Pick disease type C: An update оf on behalf of the NP-C Guidelines Working Group// Mol Genet Metab.2012. V.106. №3. P.330-44.
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. №3. P.243-92009
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.
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. №9. P.765-72.
Vanier M.T., Millat G. Niemann–Pick disease type C// Clin. Genet. 2003. V.64. P.269–81.
Vanier M.T. Niemann-Pick disease type C// Orphanet J Rare Dis. 2010. V.5. P.16.
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.
Sevin M., Lesca G., Baumann N. et al., The adult form of Niemann–Pick disease type C// Brain. 2007. V.130. P.120–133.
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. №3. P.291–5.
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.
Belmatoug N. et al. Gastrointestinal disturbances and their management in miglustat-treated patients //Journal of inherited metabolic disease. – 2011. – Т. 34. – №.5– С.191
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.
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.
Pineda M. et al Miglustat in Niemann-Pick type C disease: review// Orphanet Journal of rare diseases. 2018. V.13. P.140.
Инструкция по медицинскому применению препарата Завеска ЛСР-008892/09-220409.
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.
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.
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.
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.
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.
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.
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.
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. № 1. P. 35.
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.
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. № 6. P. 1373-85.
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.
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. № 1. P. 76.
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.