Современные рекомендации по ведению пациентов с болезнью Гоше

В статье представлены данные по эпидемиологии, патогенезу, современной классификации и основным клиническим проявлениям болезни Гоше у детей. Приведены критерии дифференциальной диагностики с другими заболеваниями. Показано, что единственным эффективным методом лечения болезни Гоше служит патогенетическая ферментозаместительная терапия, которая купирует основные клинические проявления болезни, улучшает качество жизни больных и не оказывает выраженных побочных эффектов. Указаны основные ошибки диагностики и ведения пациентов, а также необоснованные назначения при лечении этого заболевания.

1. Лукина Е.А. Болезнь Гоше: современная диагностика и лечение // Клиническая онкогематология. — 2009. — Т. 2. — № 2. — С. 196–199.

2. Baldellou A, Andria G, Campbell PE, et al. Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004;163(2):67–75. https://doi.org/10.1007/s00431-003-1363-z

3. stone DL, Tayebi N, Orvisky E, et ai. Giucocerebrosidase gene mutations in patients with type 2 Gaueher disease. Hum Mutat 2000;15(2):181-188. https://doi.org/10.1002/(sici)1098-1004(200002)15:2<181::aid-humu7>3.0.eo;2-s

4. Do J, MeKinney C, Sharma R Sidransky E. Giucocerebrosidase and its reievanee to Parkinson disease. Mo/ Neurodegener. 2019;14(1):36. https://doi.org/10.1186/sl3024-019-0336-2

5. Краенопольекая К.Д. Наследственные болезни обмена веществ, еправочное пособие для врачей. — M.: Фохат; 2005. — 364 с.

6. Букина TM. Биохимическая и молекулярно-генетическая характеристика болезни Гоше у российских пациентов: дис. ... канд. биол. наук. — M.; 2005. — 114 с.

7. Grabowski G, Zimran A, ida H. Gaucher disease types I and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90(Suppl 1):12-18. https://doi.org/10.1002/aJh.24063

8. Nalysnyk L, Rotella R Simeone J, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65-73. https://doi.org/10.1080/10245332.2016.1240391

9. Bodamer 0, Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010;160(23-24):600-604. https://doi.org/10.1007/sl0354-010-0814-l

10. Sibille A, Eng C, Kim S, et al. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 1993;52(6):1094-1101.

11. Sidransky E, Bottler A, Stubblefield B, Ginns E. DNA mutational analysis of type I and type 3 Gaucher patients: How well do mutations predict phenotype? Hum Mutat 1994;3(l):25-28. https://doi.org/10.1002/humu.1380030105

12. Grabowski G. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:13-18. https://doi.org/10.1182/asheducation-2012.l.13

13. Zimran A, WaJnraJch M, Hernandez B, Pastores GM. Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease. OrphanetJ Rare Dis. 2018;13(1):36. https://doi.org/10.1186/sl3023-018-0776-8

14. Revel-Vilk S, Szer J, Mehta A, Zimran A. Howwemanage Gaucher Disease in the era of choices. Br J Haematol, 2018;182(4):467-480. https://doi.org/10.llll/bjh.15402

15. Мовсисян RB. Оптимизация оказания медицинской помощи детям C болезнью Гоше в Российской Федерации: автореф. дис. ... канд. мед. наук. — M.; 2018. — 185 с.

16. Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis. 2001;24(3):319-327. https://doi.org/10.1023/a:1010514614570

17. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4-14. https://doi.org/10.1053/J.seminhematol.2004.07.009

18. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158(16):1754-1760. https://doi.org/lO.lOOl/archinte.158.16.1754

19. Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. EurJPediatr. 2004;163(2):58-66. https://doi.org/10.1007/s00431-003-1362-0

20. Kaplan R Andersson H, Kacena К, Yee J. The clinical and demographic characteristics of non-neuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-608. https://doi.org/10.1001/archpedi.160.6.603

21. Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type I Gaucher disease. J Inherit Metab Dis. 2010;33(2):167-173. https://doi.org/10.1007/sl0545-010-9055-0

22. Pastores G, Barnett N, Bathan R Kolodny E. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis. 2003;26(7):641-645. https://doi.org/10.1023/b:boli.0000005623.60471.51

23. Huang W Zhang X, Chen W. Gaucher disease: a lysosomal neurodegenerative disorder. Eur Rev Wed Pharmacol Sci. 2015;19(7):1219-1226.

24. Tylki-Szymanska A, Vellodi A, EI-BeshIawyA, etal. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis. 2010;33(4):339-346. https://doi.org/10.1007/sl0545-009-9009-6

25. Rosenbloom B, Weinreb N. Gaucher Disease: A Comprehensive Review. Crit Rev Oncog. 2013;18(3):163-175. https://doi.org/10.1615/critrevoncog.2013006060

26. Weinthal JA. Prognosis of patients with Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6):10-11.

27. Kallish S, Kaplan R A disease severity scoring system for children with type I Gaucher disease. Eur J Pediatr. 2013;172(l):39-43. https://doi.org/10.1007/s00431-012-1830-5

28. Hadas-Halpern I, Deeb M, Abrahamov A, et al. Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med. 2010;29(5):727-733. https://doi.org/10.7863/Jum.2010.29.5.727

29. Miller A, Brown LK, Pastores GM, et al. Pulmonary involvement in type I Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 2003;63(5):368-376. https://doi.org/10.1034/J.1399-0004.2003.00060.x

30. Andrade-CamposM, AIfonsoR Irun Petal. Diagnosisfeaturesof pediatric Gaucher. OrphanetJ Rare Dis. 2017;12(1):84. https://doi.org/10.1186/sl3023-017-0627-z

31. Carubbi F, Cappellini MD, Fargion S, et al. Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist. DigLiverDis. 2020;52(4):368-373. https://doi.org/10.1016/J.dld.2020.01.004

32. Hughes D, Sidransky E. Gaucher disease: Initial assessment, monitoring, and prognosis. In: UpToDate. Available online: https://www.uptodate.com/contents/gaucher-disease-initial-assessment-monitoring-and-prognosis. Accessed on December 06, 2024.

33. Giraldo R Andrade-Campos M. Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease. J Blood Med. 2021;12:1045-1056. https://doi.org/10.2147/JBM.S279756

34. Stein R Yang R, Liu J, et al. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis. 2011;34(2):429-437. https://doi.org/10.1007/S10545-010-9271-7

35. Wine E, Yaniv I, Cohen I. Hyperimmunoglobulinemia in pediatric-onset type I Gaucher disease and effects of enzyme replacement therapy. J Pediatr Hematol Oncol, 2007;29(7):451-457. https://doi.org/10.1097/MPH.0b013e31806451d3

36. Mekinian A, Stirnemann J, Belmatoug N, et al. Ferritinemia during type I Gaucher disease: Mechanisms and progression under treatment. Blood Cells Mol Dis. 2012;49(l):53-57. https://doi.org/10.1016/J.bcmd.2012.04.002

37. Motta I, Consonni D, Stroppiano M, et al. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia. Sc/ Rep. 2021;11(1):2594. https://doi.org/10.1038/s41598-021-82296-z

38. Regenboog M, van Kuilenburg AB, VerheiJ J, et al. Hyperferritinemiaand iron metabolism in Gaucher disease: Potential pathophysiological implications. Blood Rev. 2016;30(6):431-437. https://doi.org/10.1016/J.blre.2016.05.003

39. Mikosch R Reed M, Baker R, etal. Changesofbonemetabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcif Tissue Int 2008;83(l):43-54. https://doi.org/10.1007/s00223-008-9143-4

40. Ioscovich A, Fadeev D, Kenet G, et al. Thromboelastography as a Surrogate Marker of Perisurgical Hemostasis in Gaucher Disease. Clin Appl Thromb Hemost 2016;22(7):693-697. https://doi.org/10.1177/1076029615578165

41. Deghady A, Marzouk I, El-Shayeb A, Wali Y. Coagulation abnormalities in type 1 Gaucher disease in children. Pediatr Hematol Oncol. 2006;23(5):411–417. https://doi.org/10.1080/08880010600623232

42. Stroppiano M, Calevo M, Corsolini F, et al. Validity of β-Dglucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients. Clin Biochem. 2014;47(13-14):1293–1296. https://doi.org/10.1016/j.clinbiochem.2014.06.005

43. Rolfs A, Giese A, Grittner U, et al. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013;8(11):e79732. https://doi.org/10.1371/journal.pone.0079732

44. Murugesan V, Chuang WL, Liu J, et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082– 1089. https://doi.org/10.1002/ajh.24491

45. Aerts JM, van Breemen M, Bussink A, et al. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr. 2008;97(457):7–14. https://doi.org/10.1111/j.16512227.2007.00641.x

46. Мазырко Е.В., Ростовцев М.В., Коробкин А.В. Болезнь Гоше. Опыт рентгенодиагностики поражения скелета // Медицинская визуализация. — 2010. — № 2. — С. 48–53.

47. Faden M, Krakow D, Ezgu F, et al. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet Part A. 2009;149A(6):1334–1345. https://doi.org/10.1002/ajmg.a.32253

48. Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Sceletal Radiol. 2008;37(3):185– 188. https://doi.org/10.1007/s00256-007-0425-0

49. Rosenthal DI, Mayo-Smith W, Goodsitt MM, et al. Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT. Radiology. 1989;170(1 Pt 1):143–146. https://doi.org/10.1148/radiology.170.1.2909087

50. van Dahl S, Poll L, Di Rocco M. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22(6):1045–1064. https://doi.org/10.1185/030079906X104623

51. Скрипникова И.А., Щеплягина Л.А., Новиков В.Е. и др. Возможности костной рентгеновской денситометрии в клинической практике. — М.: ФГБУ «ГНИЦПМ»; 2015. — 36 с.

52. Giuffrida G, Cappellini M, Carubbi F, et al. Management of bone disease in Gaucher disease type 1: clinical practice. Adv Ther. 2014;31(12):1197–1212. https://doi.org/10.1007/s12325014-0174-0

53. Hollak C, van Weely S, van Oers M, Aerts J. Marked elevation of plasms chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288–1292. https://doi.org/10.1172/JCI117084

54. Rizk TM, Ariganjoye RO, Alsaeed GI. Gaucher disease. Unusual presentation and mini-review. Neurosciences (Riyadh). 2015;20(3):271–276. https://doi.org/10.17712/nsj.2015.3.20140622

55. Pinto F, Nassone E, Ismail M, et al. Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique. J Inborn Errors Metab Screen. 2021;9(1). https://doi.org/10.1590/2326-4594JIEMS-2020-0022

56. Maan W, Karjoo M, Beg M. Report of Four Children with Gaucher Disease and Review of Literature. Int J Pediatr. 2016;4(8):2287– 2293.

57. Poffenberger CN, Inati S, Tayebi N, et al. EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review. Mol Genet Metab. 2020;131(3):358–363. https://doi.org/10.1016/j.ymgme.2020.10.010

58. Weinreb NJ, Goker-Alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022;136(1):4–21. https://doi.org/10.1016/j.ymgme.2022.03.001

59. Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis. 2009;32(5):660–664. https://doi.org/10.1007/s10545-009-1164-2

60. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. Iran J Child Neurol. 2019;13(1):7–24.

61. Altunbas G, Ercan S, Inanç IH, et al. Extensive vascular and valvular involvement in Gaucher disease. Asian Cardiovasc Thorac Ann. 2015;23(4):446–448. https://doi.org/10.1177/0218492313513598

62. Kishnani PS, Al-Hertani W, Balwani M, et al. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Mol Genet Metab. 2022;135(2):154– 162. https://doi.org/10.1016/j.ymgme.2021.12.009

63. Мовсисян Г.Б., Сурков А.Н., Намазова-Баранова Л.С., Савостьянов К.В. Особенности диагностики болезни Гоше у детей в Российской Федерации // Российский журнал детской гематологии и онкологии. — 2020. — Т. 7. — № 2. — С. 42–53. — https://doi.org/10.21682/2311-1267-20207-2-42-53

64. Hughes DA, Pastores GM. Gaucher Disease. In: GeneReviews [Internet]. Adam MP, Feldman J, Mirzaa GM, et al., eds. Seattle (WA): University of Washington, Seattle; 1993–2024. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1269. Accessed on December 06, 2024.

65. Dinur T, Bauer P, Beetz C, et al. Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? Int J Mol Sci. 2022;23(3):1627. https://doi.org/10.3390/ijms23031627

66. Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447–458. https://doi.org/10.1007/s00431012-1771-z

67. van Dahl S, Mengel E. Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract Res Clin Gastroenterol. 2010;24(5):619–628. https://doi.org/10.1016/j.bpg.2010.09.001

68. Marcucci G, Zimran A, Bembi B, et al. Gaucher disease and bone manifestations. Calcif Tissue Int. 2014;95(6):477–494. https://doi.org/10.1007/s00223-014-9923-y

69. NORD. Gaucher Disease. In: National Organization for Rare Disorders (NORD): Official website. Available online: https://rarediseases.org/rare-diseases/gaucher-disease. Accessed on December 06, 2024.

70. Leonart LP, Fachi MM, Böger B, et al. A Systematic Review and Meta-analyses of Longitudinal Studies on Drug Treatments for Gaucher Disease. Ann Pharmacother. 2023;57(3):267–282. https://doi.org/10.1177/10600280221108443

71. Goker-Alpan O. Optimal therapy in Gaucher disease. Ther Clin Risk Manag. 2010;6:315–323. https://doi.org/10.2147/tcrm.s6955

72. Starzyk K, Richards S, Yee J, et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007;90(2):157–163. https://doi.org/10.1016/j.ymgme.2006.09.003

73. Глуразим: инструкция по применению. Регистрационное удостоверение № ЛП-№(003797)-(РГ-RU). Дата регистрации: 24.11.2003 // Государственный реестр лекарственных средств: официальный сайт. [Glurazyme: drug label. Registration certificate No. ЛП-№(003797)-(РГ-RU). Registration date: November 24, 2003. In: State Register of Medicines: Official website. (In Russ).] Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=bddc9fae-e918-4ea9-8e74-b63b01d953da. Ссылка активна на 06.12.2024.

74. Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543–553. https://doi.org/10.1007/s10545-012-9528-4

75. ВПРИВ: инструкция по применению. Регистрационное удостоверение № ЛП-№(002738)-(РГ-RU). Дата регистрации: 11.07.2023 // Государственный реестр лекарственных средств: официальный сайт. Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=af8ba05e-dcad-4442-af95-ab4357860062. Ссылка активна на 06.12.2024.

76. Gonzalez DE, Turkia HB, Lukina EA, et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol. 2013;88(33):166–171. https://doi.org/10.1002/ajh.23381

77. Pastores GM, Rosenbloom B, Weinreb N, et al. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. 2014;16(5):359–366. https://doi.org/10.1038/gim.2013.154

78. Giraldo P, et al. Safety and efficacy of velaglucerase alfa in children with type 1 Gaucher disease: 2-year experience. Poster presented at the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting. Charlotte, North Carolina, USA. 2012, March 27–31.

79. Tantawy AAG, El-Beshlawy A, Marzouk I, et al. Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease. J Inborn Errors Metab Screen. 2018;6. https://doi.org/10.1177/2326409818765564

80. Sagara R, Ishigaki M, Otsuka M, et al. Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan. Orphanet J Rare Dis. 2021;16(1):502. https://doi.org/10.1186/s13023021-02119-2

81. Элисо: инструкция по применению. Регистрационное удостоверение № ЛП-004410. Дата регистрации: 15.08.2017 // Государственный реестр лекарственных средств: официальный сайт. Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=2e6257b6-268a4db4-9b72-0b0e38030b9d. Ссылка активна на 06.12.2024.

82. Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, et al. Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease. Blood Cells Mol Dis. 2015;54(1):9–16. https://doi.org/10.1016/j.bcmd.2014.10.002

83. Hughes D, Mikosch P, Belmatoug N, et al. Gaucher Disease in Bone: From Pathophysiology to Practice. J Bone Miner Res. 2019;34(6):996–1013. https://doi.org/10.1002/jbmr.3734

84. Bembi В, Ciana G, Mengel E, et al. Bone complications in children with Gaucher disease. Br J Radiol. 2002;75(Suppl 1):A37– A43. https://doi.org/10.1259/bjr.75.suppl_1.750037

85. Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. 2011;104(4):438–447. https://doi.org/10.1016/j.ymgme.2011.08.004

86. Accordant Health Services. CVS Caremark. Exercise and Gaucher Disease. Available online: http://www.cvscaremarkspecialtyrx.com/patients/condition-resources-tools/lysosomal-storage-disorders/gaucher-disease/staying-healthy/exerc. Accessed on December 06, 2024.

87. Marzouk I, Deghady A, Omar OM, Ashour RS. Hyperimmunoglobulinemia and IgG Subclass Abnormalities in Children With Gaucher Disease. J Pediatr Hematol Oncol. 2019;41(7):e416–e420. https://doi.org/10.1097/MPH.0000000000001574

88. Puri RD, Kapoor S, Kishnani PS, et al. Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India — Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatr. 2018;55(2):143–153.

89. Pasternack MS. Prevention of infection in patients with impaired splenic function. In: UpToDate. Available online: https://www.uptodate.com/contents/prevention-of-infection-in-patients-with-impaired-splenic-function?topicRef=3994&source=see_link. Accessed on December 06, 2024.

90. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017;18(2):441. https://doi.org/10.3390/ijms18020441

91. Сметанина Н.С. Гематологические проявления болезни Гоше // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. — 2016. — Т. 15. — № 2. — С. 53–58. — https://doi.org/10.24287/1726-1708-2016-15-2-53-58

92. Bohte A, van Dussen L, Akkerman E, et al. Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage. PLoS One. 2013;8(3):e57507. https://doi.org/10.1371/journal.pone.0057507

93. de Lédinghen V, Le Bail B, Rebouissoux L, et al. Liver Stiffness Measurement in Children Using FibroScan: Feasibility Study and Comparison With Fibrotest, Aspartate Transaminase to Platelets Ratio Index, and Liver Biopsy. J Pediatr Gastroenterol Nutr. 2007;45(4):443–450. https://doi.org/10.1097/MPG.0b013e31812e56ff

94. Кривенцова Н.А., Терещенко Г.В. Оценка клеточности костного мозга методом магнитно-резонансной томографии при апластической анемии у детей // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. — 2023. — Т. 22. —№ 1. — С. 73–77. — https://doi.org/10.24287/17261708-2023-22-1-73-77.

95. Gawad Tantawy AA, Moneam Adly AA, Madkour SS, Salah El-Din NY. Pulmonary manifestations in young Gaucher disease patients: Phenotype-genotype correlation and radiological findings. Pediatr Pulmonol. 2020;55(2):441–448. https://doi.org/10.1002/ppul.24544