Документ применяется с 1 января 2025 года. До этого срока действует в предыдущей редакции.

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. - Т. 34. - N. 5 - С. 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. 560 - 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.

36. Shawkat FS, Carr L, West P, Taylor DS, Surtees R, Harris CM. Vertical saccade palsy: a presenting sign of Niemann-Pick type IIS. Eur J Neurol. 1994; 1(1): 93 - 95. doi: 10.1111/j.1468-1331. 1994.tb00056.x

37. Hsu YS, Hwu WL, Huang SF, et al. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant. 1999; 24(1): 103 - 107. doi: 10.1038/sj.bmt.1701826

38. Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012; 106(3): 330 - 344. doi: 10.1016/j.ymgme.2012.03.012

39. Zafeiriou DI, Triantafyllou P, Gombakis NP, Vargiami E, Tsantali C, Michelakaki E. Niemann-Pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003; 29(3): 242 - 244. doi: 10.1016/s0887-8994(03)00219-4

40. Tedeschi G, Bonavita S, Barton NW, et al. Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease. J Neurol Neurosurg Psychiatry. 1998; 65(1): 72 - 79. doi: 10.1136/jnnp.65.1.72

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

42. Berry-Kravis E. Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021; 37: 100879. doi: 10.1016/j.spen.2021.100879

43. Patterson M. Niemann-Pick Disease Type C. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews00000002.wmz. Seattle (WA): University of Washington, Seattle; January 26, 2000.

44. A. Pikus. Audiologic profile in Niemann-Pick C. Ann. N.Y. Acad. Sci., 630 (1991), pp. 313 - 314. https://doi.org/10.1111/j.1749-6632.1991.tb19618.x

45. Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5): 388 - 396

46. Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet J Rare Dis. 2022 Feb 14; 17(1): 51,

47. Berry-Kravis E. Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 Apr; 37: 100879

48. Seker Yilmaz B, Baruteau J, Rahim AA, Gissen P. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. Int J Mol Sci. 2020 Jul 17; 21(14): 5059

49. Kraus D, Abdelrahim H, Waisbourd-Zinman O, Domin E, Zeharia A, Staretz-Chacham O. Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement. Children (Basel). 2022, Apr 12; 9(4): 545

50. Geberhiwot, T., Moro, A., Dardis, A. et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 13, 50 (2018). https://doi.org/10.1186/s13023-018-0785-7

51. Tirelli, C.; Rondinone, O.; Italia, M.; Mira, S.; Belmonte, L.A.; De Grassi, M.; Guido, G.; Maggioni, S.; Mondoni, M.; Miozzo, M.R.; et al. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. Biomolecules 2024, 14, 211. https://doi.org/10.3390/biom14020211

52. Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A. Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. Int J Mol Sci. 2019 Jan 15; 20(2): 327

53. von Ranke FM, Pereira Freitas HM, 00000003.wmz AD, Rodrigues RS, Hochhegger B, Escuissato D, Araujo Neto CA, da Silva TK, Marchiori E. Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review. Lung. 2016 Aug; 194(4): 511 - 8

54. King KA, Gordon-Salant S, Yanjanin N, Zalewski C, Houser A, Porter FD, Brewer CC. Auditory phenotype of Niemann-Pick disease, type C1. Ear Hear. 2014 Jan - Feb; 35(1): 110 - 7. doi: 10.1097/AUD.0b013e3182a362b8. PMID: 24225652; PMCID: PMC3895917

55. Report Dilek BADAY KESKiN, 00000004.wmz 00000005.wmz, Meltem DALYAN, 00000006.wmz SEVIM KALIN Rehabilitation is an Important Pillar of the Treatment in Patients with Niemann Pick Disease Type C: A Case 00000007.wmz 00000008.wmz Hast Derg/Turkish J Pediatr Dis/2019; 2: 116 - 119

56. Maresca G, Formica C, Nocito V, Latella D, Leonardi S, De Cola MC, Triglia G, Bramanti P, Corallo F. Neuropsychological assessment in Niemann-Pick disease type C: a systematic review. Neurol Sci. 2021 Aug; 42(8): 3167 - 3175. doi: 10.1007/s10072-021-05337-5. Epub 2021 May 22. PMID: 34021815

57. Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Kinematic analysis of motor dysfunction in Niemann-Pick type C. Clin Neurophysiol. 2007 May; 118(5): 1010 - 8. doi: 10.1016/j.clinph.2007.01.011. Epub 2007 Feb 27. PMID: 17329166

58. Bernardo A, De Nuccio C, Visentin S, Martire A, Minghetti L, Popoli P, Ferrante A. Myelin Defects in Niemann-Pick Type C Disease: Mechanisms and Possible Therapeutic Perspectives. Int J Mol Sci. 2021 Aug 17; 22(16): 8858. doi: 10.3390/ijms22168858. PMID: 34445564; PMCID: PMC8396228

59. R.A. 00000009.wmz, R.V. 00000010.wmz, G. 00000011.wmz, A. 00000012.wmz, C. 00000013.wmz, M. 00000014.wmz, F.R. 00000015.wmz, F. 00000016.wmz, R. 00000017.wmz, Data mining process for identification of non-spontaneous saccadic movements in clinical electrooculography, Neurocomputing, Volume 250, 2017, Pages 28 - 36, ISSN 0925 - 2312, https://doi.org/10.1016/j.neucom.2016.10.077

60. Ramos BCF, Aranda CS, Cardona RSB, Martins AM, 00000018.wmz D, Clemens SAC, Clemens R. Vaccination strategies for people living with inborn errors of metabolism in Brazil. J Pediatr (Rio J). 2023 Mar - Apr; 99 Suppl 1 (Suppl 1): S70 - S80. doi: 10.1016/j.jped.2022.12.001. Epub 2022 Dec 24. PMID: 36574955; PMCID: PMC10066440

61. Pineda, M., Mengel, E., 00000019.wmz, H. et al. A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C). BMC Pediatr 16, 107 (2016) doi: 10.1186/s12887-016-0641-7

62. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012; 78: 1560 - 7.

63. James E. Wraith, Matthias R. Baumgartner, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C, Molecular Genetics and Metabolism, 2009, Volume 98, Pages 152 - 165

64. Chabrol B. La maladie de Niemann-Pick type C: aspects 00000020.wmz [Therapies in the Niemann-Pick type C disease]. Arch Pediatr. 2010 Jun; 17 Suppl 2: S54 - 7. French. doi: 10.1016/S0929-693X(10)70013-0. PMID: 20620897