Список литературы

1. Hirschhorn R., Reuser A. Glycogen storage disease Type II: acid alpha-glucosidase (acid maltase) deficiency//In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York. 2001. P. 3389 - 3420.

2. http://www.hgmd.cf.ac.uk

3. Hagemans M., Winkel, Hop W. et al. Disease severity in children and adults with Pompe disease related to age and disease duration//Neurology. 2005. V. 64. P. 2139 - 41.

4. Muller-Felber W., Horvath R., Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients//Neuromuscul Disord. 2007. V. 17. P. 698 - 706.

5. Wokke J.H., Escolar D.M., Pestronk A. et al. Clinical features of late-onset Pompe disease: a prospective cohort study//Muscle Nerve. 2008. V. 38. N 4. P. 1236 - 45.

6. Barba-Romero M.A., Barrot E., Bautista-Lorite J. et al. Clinical guidelines for late-onset Pompe disease//Rev Neurol. 2012. V. 54. N 8. P. 497 - 507.

7. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders//JAMA. 1999. V. 281. N 3. P. 249 - 54.

8. Ausems M.G., Verbiest J., Hermans M.P. et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling//Eur J Hum Genet. 1999. V. 7. N 6. P. 713 - 6.

9. Mechtler T.P., Stary S. et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria//Lancet. 2012. V. 379. N 9813. P. 335 - 41.

10. Chiang S.C., Hwu W.L., Lee N.C., Hsu L.W., Chien Y.H. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program//Mol Genet Metab. 2012. V. 106. P. 281 - 6.

11. Zhao Y., Wang Z., Lu J. et al. Characteristics of Pompe disease in China: a report from the Pompe registry//Orphanet J Rare Dis. 2019. V. 14. N 78. doi: 10.1186/s13023-019-1054-60.

12. van den Hout H.M. P., Hop W. et al. The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases//Literature Pediatrics. 2003. V. 112. N 2. 332 - 40.

13. Chien Y., Lee N., Thurberg B. et al. Pompe disease in infants: Improving the prognosis by newborn screening and early treatment//Pediatrics. 2009. V. 124. P. e1116 - e1125.

14. Котлукова Н.П., Михайлова С.В. и др. Младенческая форма болезни Помпе: клиника, диагностика и лечение//Нервно-мышечные болезни. 2012. N 4. С. 66 - 74.

15. Kishnani P., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline//Genetics in Medicine. 2006. V. 8. N 5. P. 267 - 88.

16. Van Der Beek N.A., De Vries J.M., Hagemans M.L. et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study//Orphanet J Rare Dis. 2012. V. 7. P. 88.

17. Cupler E.J., Berger K.I., Leshner R.T. et al. Consensus treatment recommendations for late onsent Pompe disease//Muscle Nerve. 2012. V. 45. N 3. P. 319 - 33.

18. Клюшников С.А., Загоровская Т.Б. и др. Клинический случай болезни Помпе с поздним началом//Нервные болезни. 2015. N 2. С. 38 - 43.

19. Курбатов С.А., Никитин С.С., Захарова Е.Ю. Болезнь Помпе с поздним началом с фенотипом поясно-конечностной миодистрофии//Нервно-мышечные болезни. 2015. N 3 С. 65 - 68.

20. Никитин С.С., Ковальчук М.О. и др. Болезнь Помпе с поздним началом: первое клиническое описание в России//Нервно-мышечные болезни. 2014. N 1. С. 62 - 8.

21. Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нервно-мышечных болезней//Неврологический журнал. 2015. Т. 20. N 5. С. 26 - 33.

22. Никитин С.С., Курбатов С.А., Бределев В.А., Ковальчук М.О. Настораживающие признаки и симптомы в ранней диагностике болезни Помпе с поздним началом: клиника превыше всего//Журнал неврологии и психиатрии им. С.С. Корсакова. 2015. N 12. С. 19 - 24.

23. Desnuelle C. Поздняя форма болезни Помпе: диагностические и терапевтические подходы//Нервно-мышечные болезни. 2012. N 3. С. 20 - 33.

24. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting Molecular Genetics and Metabolism 93 (2008) 275 - 281.

25. Panagopoulou V., Deftereos S., Kossyvakis C. NTproBNP: an important biomarker in cardiac diseases//Curr Top Med Chem. 2013. V. 13. N 2. P. 82 - 94.

26. Ермоленко В.С., Сильнова И.В., Басаргина Е.Н. Динамика содержания в крови n-концевого фрагмента мозгового натрийуретического пептида (NT-proBNP) при гипертрофической кардиомиопатии у детей//Российский педиатрический журнал. 2016. Т. 19. N. 2.

27. Bembi B., Cerini E., Danesino C. et al. Management and treatment of glycogenosis type II//Neurology. 2008. V. 71. P. 12 - 36.

28. Schoser B., Stewart A., Kanters S. et al. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis//J Neurol. 2017. V. 264. P. 621 - 30.

29. Toscano A., Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review//J Neurol. 2013. V. 260. N 4. P. 951 - 9.

30. Kishnani P., Corzo D., Leslie N. et al. Early treatment with alglucosidase alfa prolongs long term survival of infants with Pompe disease//Pediatr Res. 2009. V. 66. N 3. P. 329 - 35.

31. Llerena J.C., Horovitz D.M., Nagahashi Marie S.K. et al. The Brazilian Consensus on the Management of Pompe Disease//The Journal of pediatrics. V. 155. N 4. Suppl. 2. P. 47 - 56.

32. Byrne B.J., Kishnani P.S., Case L.E. et al. Pompe disease: Design, methodology, and early findings from the Pompe Registry//Molecular Genetics and Metabolism. 2011. V. 103. P. 1 - 11.

33. Taglia A., Picillo E., D'Ambrosio P., Cecio M.R., Viggiano E., Politano L. Genetic counseling in Pompe disease//Acta Myol. 2011. V. 30. N 3. P. 179 - 81.

34. Skirton H., Cordier C., Ingvoldstad C., Taris N., Benjamin C. The role of the genetic counsellor: a systematic review of research evidence//Eur J Hum Genet. 2015. V. 23. N 4. P. 452 - 8.

35. Рисунок 8 D, Kruijshaar ME, Plug I, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016; 39(2): 253 - 260.

36. Сухоруков В.С., Харламов Д.А., Перевезенцев О.А., Мамедов И.С. Диагностика болезни Помпе. - 2010. Российский вестник перинатологии и педиатрии; 6: 23 - 25.

37. Peruzzo P, Pavan E, Dardis A. Molecular genetics of Pompe disease: a comprehensive overview. Ann Transl Med. 2019; 7(13): 278. doi: 10.21037/atm.2019.04.13

38. Limongelli G, Fratta F. S1.4 Cardiovascular involvement in Pompe disease. Acta Myol. 2011; 30(3): 202 - 203.

39. van der Ploeg AT. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J. 2005 Dec; 26(6): 984 - 5. doi: 10.1183/09031936.05.00112005

40. Fiorentino G, Annunziata A, Cauteruccio R, Caputi M. S1.5 Role of the pulmonologist in the late-onset Pompe disease. Acta Myol. 2011; 30(3): 203 - 204.

41. Sixel BS, Silva LD, Cavalcanti NC, et al. Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil. J Bras Pneumol. 2017; 43(1): 54 - 59. doi: 10.1590/S1806-37562015000000343

42. Case LE, Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006 May; 8(5): 318 - 27. doi: 10.1097/01.gim.0000217789.14470.c5.

43. Corrado B, Ciardi G, Iammarrone CS. Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature. Neurol Int. 2019; 11(2): 7983. Published 2019 Jun 18. doi: 10.4081/ni.2019.7983

44. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011 Jul; 13(7): 625 - 31. doi: 10.1097/GIM.0b013e3182142966.

45. Kretzschmar HA, Wagner H, Рисунок 9 G, Danek A, Witt TN, Mehraein P. Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci. 1990 Sep; 98(2-3): 169 - 83. doi: 10.1016/0022-510x(90)90258-o.

46. Kishnani PS, Kronn D, Brassier A, et al. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report. Genet Med. 2023;25(2):100328. doi:10.1016/j.gim.2022.10.010

47. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010; 362(15): 1396 - 1406. doi: 10.1056/NEJMoa0909859

48. Dajnoki A, Рисунок 10 A, Fekete G, et al. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008; 54(10): 1624 - 1629. doi: 10.1373/clinchem.2008.107722

49. Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial [published correction appears in Lancet Neurol. 2022 Apr; 21(4): e4]. Lancet Neurol. 2021; 20(12): 1012 - 1026. doi: 10.1016/S1474-4422(21)00241-6

50. Paganoni S, Amato A. Electrodiagnostic evaluation of myopathies. Phys Med Rehabil Clin N Am. 2013; 24(1): 193 - 207. doi: 10.1016/j.pmr.2012.08.017

51. Scheffers LE, Somers OC, Dulfer K, et al. Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease. J Inherit Metab Dis. 2023; 46(4): 605 - 617. doi: 10.1002/jimd.12607

52. Case LE, Bjartmar C, Morgan C, et al. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Neuromuscul Disord. 2015; 25(4): 321 - 332. doi: 10.1016/j.nmd.2014.12.004

53. Priya S. Kishnani et al. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report. Genetics in Medicine (2023) 25, 100328. https://doi.org/10.1016/j.gim.2022.10.010.

54. El Haddad L, Khan M, Soufny R, Mummy D, Driehuys B, Mansour W, Kishnani PS, ElMallah MK. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. Ther Clin Risk Manag. 2023 Sep 1; 19: 713 - 729

55. Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2023 Nov 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2023.

56. Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Рисунок 11 N. Infantile-onset Pompe disease: Diagnosis and management. Arch Argent Pediatr. 2019 Aug 1; 117(4): 271 - 278

57. Boentert M, Prigent H, Рисунок 12 K, Jones HN, Mellies U, Simonds AK, Wenninger S, Barrot Рисунок 13 E, Confalonieri M. Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease. Int J Mol Sci. 2016 Oct 17; 17(10): 1735

58. Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R, Eshraghi P, Fakharian A, Hadipour Z, Haghi Ashtiani B, Moravej H, Nilipour Y, Sarraf P, Sayadpour Zanjani K, Nafissi S. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus. Front Neurol. 2021 Sep 21; 12: 739931

59. Рисунок 14 Рисунок 15 M, Canda E, Рисунок 16 H, Erdem F, Рисунок 17 Рисунок 18 P, Bal Sahbudak Z, Kalkan Рисунок 19 S, Рисунок 20 M. COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience. Turk Arch Pediatr. 2023 May; 58(3): 262 - 267. doi: 10.5152/TurkArchPediatr.2023.22233