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Список литературы

  1. M. M. McGovern, R. Avetisyan, B.-J. Sanson, and O. Lidove, “Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD),” Orphanet J Rare Dis, vol. 12, no. 1, p. 41, Dec. 2017, doi: 10.1186/s13023-017-0572-x.
  2. M. P. Wasserstein and E. H. Schuchman, Acid Sphingomyelinase Deficiency. 1993.
  3. Кузенкова Л. М. и др., “100 лет болезни Ниманна-Пика: что нового?” Эффективная фармакотерапия, no. 3, pp. 10–15, 2015.
  4. Geberhiwot T, Wasserstein M, Wanninayake S, et al. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B). Orphanet J Rare Dis. 2023;18(1):85. Published 2023 Apr 17. doi:10.1186/s13023-023-02686-6.
  5. C. Pinto, D. Sousa, V. Ghilas, A. Dardis, M. Scarpa, and M. Macedo, “Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective,” Int J Mol Sci, vol. 22, no. 23, p. 12870, Nov. 2021, doi: 10.3390/ijms222312870.
  6. X. Sagaert, T. Tousseyn, G. De Hertogh, and K. Geboes, “Macrophage-related diseases of the gut: a pathologist’s perspective,” Virchows Archiv, vol. 460, no. 6, pp. 555–567, Jun. 2012, doi: 10.1007/s00428-012-1244-9.
  7. P. D. Stenson et al., “The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting,” Hum Genet, vol. 139, no. 10, pp. 1197–1207, Oct. 2020, doi: 10.1007/s00439-020-02199-3.
  8. M. J. Landrum et al., “ClinVar: public archive of relationships among sequence variation and human phenotype.,” Nucleic Acids Res, vol. 42, no. Database issue, pp. D980-5, Jan. 2014, doi: 10.1093/nar/gkt1113.
  9. E. H. Schuchman, “The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick disease,” J Inherit Metab Dis, vol. 30, no. 5, pp. 654–663, Oct. 2007, doi: 10.1007/s10545-007-0632-9.
  10. E. H. Schuchman and S. R. Miranda, “Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.,” Genet Test, vol. 1, no. 1, pp. 13–9, 1997, doi: 10.1089/gte.1997.1.13.
  11. “https://www.orpha.net/en/disease/detail/618899.”
  12. C. E. M. Hollak et al., “Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.,” Mol Genet Metab, vol. 107, no. 3, pp. 526–33, Nov. 2012, doi: 10.1016/j.ymgme.2012.06.015.
  13. M. M. McGovern, A. Aron, S. E. Brodie, R. J. Desnick, and M. P. Wasserstein, “Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.,” Neurology, vol. 66, no. 2, pp. 228–32, Jan. 2006, doi: 10.1212/01.wnl.0000194208.08904.0c.
  14. Захарова Е.Ю., Петрухин А.С., Михайлова С.В., Нейрометаболические заболевания у детей и подростков. Диагностика и подходы к лечению. М.: Литтерра, 2011.
  15. H. Pavlů-Pereira et al., “Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.,” J Inherit Metab Dis, vol. 28, no. 2, pp. 203–27, 2005, doi: 10.1007/s10545-005-5671-5.
  16. M. P. Wasserstein, A. Aron, S. E. Brodie, C. Simonaro, R. J. Desnick, and M. M. McGovern, “Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.,” J Pediatr, vol. 149, no. 4, pp. 554–9, Oct. 2006, doi: 10.1016/j.jpeds.2006.06.034.
  17. M. M. McGovern et al., “Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.,” Genet Med, vol. 19, no. 9, pp. 967–974, Sep. 2017, doi: 10.1038/gim.2017.7.
  18. C. S. Elbin et al., “The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes.,” Clin Chim Acta, vol. 412, no. 13–14, pp. 1207–12, Jun. 2011, doi: 10.1016/j.cca.2011.03.012.
  19. Z. Dastani, I. L. Ruel, J. C. Engert, J. Genest, and M. Marcil, “Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol,” BMC Med Genet, vol. 8, no. 1, p. 79, Dec. 2007, doi: 10.1186/1471-2350-8-79.
  20. M. P. Wasserstein et al., “The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.,” Pediatrics, vol. 114, no. 6, pp. e672-7, Dec. 2004, doi: 10.1542/peds.2004-0887.
  21. H. Ishii et al., “Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.,” J Inherit Metab Dis, vol. 29, no. 1, pp. 232–4, Feb. 2006, doi: 10.1007/s10545-006-0226-y.
  22. M. M. McGovern et al., “Lipid abnormalities in children with types A and B Niemann Pick disease.,” J Pediatr, vol. 145, no. 1, pp. 77–81, Jul. 2004, doi: 10.1016/j.jpeds.2004.02.048.
  23. M. P. Wasserstein et al., “Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.,” Mol Genet Metab, vol. 116, no. 1–2, pp. 88–97, 2015, doi: 10.1016/j.ymgme.2015.05.013.
  24. D. S. Mendelson et al., “Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.,” Radiology, vol. 238, no. 1, pp. 339–45, Jan. 2006, doi: 10.1148/radiol.2381041696.
  25. A. G. Nicholson et al., “Pulmonary involvement by Niemann-Pick disease. A report of six cases.,” Histopathology, vol. 48, no. 5, pp. 596–603, Apr. 2006, doi: 10.1111/j.1365-2559.2006.02355.x.
  26. M. M. McGovern, N. Lippa, E. Bagiella, E. H. Schuchman, R. J. Desnick, and M. P. Wasserstein, “Morbidity and mortality in type B Niemann-Pick disease.,” Genet Med, vol. 15, no. 8, pp. 618–23, Aug. 2013, doi: 10.1038/gim.2013.4.
  27. Wasserstein M, Lachmann R, Hollak C, et al. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. Genet Med. 2022;24(7):1425-1436. doi:10.1016/j.gim.2022.03.021
  28. M. M. McGovern et al., “Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).,” Genet Med, vol. 18, no. 1, pp. 34–40, Jan. 2016, doi: 10.1038/gim.2015.24.
  29. S. J. Keam, “Olipudase Alfa: First Approval,” Drugs, vol. 82, no. 8, pp. 941–947, Jun. 2022, doi: 10.1007/s40265-022-01727-x.
  30. Diaz GA, Giugliani R, Guffon N, et al. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results [published correction appears in Orphanet J Rare Dis. 2023 Mar 14;18(1):55. doi: 10.1186/s13023-023-02647-z]. Orphanet J Rare Dis. 2022;17(1):437. Published 2022 Dec 14. doi:10.1186/s13023-022-02587-0
  31. M. P. Wasserstein et al., “Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months,” J Inherit Metab Dis, vol. 41, no. 5, pp. 829–838, Sep. 2018, doi: 10.1007/s10545-017-0123-6.
  32. G. A. Diaz et al., “One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency,” Genetics in Medicine, vol. 23, no. 8, pp. 1543–1550, Aug. 2021, doi: 10.1038/s41436-021-01156-3.
  33. E. H. Schuchman and R. J. Desnick, “Types A and B Niemann-Pick disease,” Mol Genet Metab, vol. 120, no. 1–2, pp. 27–33, Jan. 2017, doi: 10.1016/j.ymgme.2016.12.008.
  34. Wasserstein, Melissa et al. “Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.” Journal of inherited metabolic disease vol. 36,1 (2013): 123-7. doi:10.1007/s10545-012-9503-0.
  35. Volders, P et al. “Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures.” American journal of medical genetics vol. 109,1 (2002): 42-51. doi:10.1002/ajmg.10278.
  36. M.M. McGovern, N. Lippa, E. Bagiella, E.N. Schuchman, R.J. Desnick, M.P. Wasserstein. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4.
  37. M.M. McGovern, M.P. Wasserstein, R. Giugliani, B. Bembi, M.T. Vanier, E. Mengel, S.E. Brodie, D. Mendelson, G. Skloot, R.J. Desnick, N. Kuriyama, G.F. Cox. A prospective, cross-sectional survey study of the natural history of Niemann–Pick disease type B. Pediatrics. 2008;122(2):e341–9.
  38. Eyasu Wakjira Korsa, Samuel Sisay Hailu, Hewan Asfaw et al. Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report, Radiology Case Reports, Volume 20, Issue 3, 2025, Pages 1456-1460, ISSN 1930-0433, https://doi.org/10.1016/j.radcr.2024.11.021.
  39. A Case Report on Niemann-Pick Disease Type A: Clinical Features and Management By Docquity May 30, 2024
  40. Gopalaswamy V, Madhyastha SP, Acharya R, Manohar C. Portal hypertension: not a common Niemann. BMJ Case Rep. 2019 Dec 5;12(12):e232660. doi: 10.1136/bcr-2019-232660. PMID: 31811098; PMCID: PMC6904207.
  41. Virmani S., Papafragakis H., Martin P. A Case of Portal Hypertension in Niemann-Pick Disease: 827. American Journal of Gastroenterology 105():p S300, October 2010.
  42. Wasserstein M, Dionisi-Vici C, Giugliani R. et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. PMID: 30514648; PMCID: PMC7249497.
  43. Melissa Wasserstein et al, Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) Mol Genet Metab . 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014.
  44. Elizabeth Mileti et al. Management of Portal Hypertension in Children Curr Gastroenterol Rep. 2010 Oct 7;13(1):10–16. doi: 10.1007/s11894-010-0151-y