Список литературы

1. Воробьев А.И. Руководство по гематологии. Т. 2. М.: Ньюдиамед, 2003. 202 - 205 p.

2. К.Д. К. Наследственные болезни обмена веществ. 2005. 20 - 22 p.

3. Horowitz M. et al. The human glucocerebrosidase gene and pseudogene: Structure and evolution//Genomics. 1989.

4. Futerman A.H., Zimran A. Gaucher disease//Gaucher Disease. 2006.

5. Pastores G.M. et al. Therapeutic goals in the treatment of Gaucher disease//Semin Hematol. 2004.

6. Boven L.A. et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages//Am J Clin Pathol. 2004.

7. Futerman A.H., Zimran A. Gaucher disease//Gaucher Disease. 2006.

8. Р.В. П. Динамика лабораторных показателей, отражающих активность макрофагальной системы, у пациентов с болезнью Гоше на фоне патогенетической терапии. Дис. канд. мед. наук. 2020. 105 p.

9. Movsisyan G.B. et al. Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data//Pediatric pharmacology. 2016.

10. Mikosch P. Editorial: Gaucher disease//Wiener Medizinische Wochenschrift. 2010.

11. Gupta N. et al. Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity//Blood Cells, Molecules, and Diseases. 2011.

12. Huang W.J., Zhang X., Chen W.W. Gaucher disease: A lysosomal neurodegenerative disorder//Eur Rev Med Pharmacol Sci. 2015.

13. Weiss K. et al. The clinical management of type 2 Gaucher disease//Molecular Genetics and Metabolism. 2015.

14. Mankin H.J., Rosenthal D.I., Xavier R. Current concepts review gaucher disease: New approaches to an ancient disease: New approaches to an ancient disease//Journal of Bone and Joint Surgery - Series A. 2001.

15. Е.А. Л. Болезнь Гоше. М.: Литерра, 2011. 54 p.

16. Zimran A. et al. Gaucher disease: Clinical, laboratory, radiologic, and genetic features of 53 patients//Medicine (United States). 1992.

17. Stein P. et al. Hyperferritinemia and iron overload in type 1 Gaucher disease//Am J Hematol. 2010. Vol. 85, N 7. P. 472 - 476.

18. Wenstrup R.J. et al. Skeletal aspects of Gaucher disease: A review//British Journal of Radiology. 2002.

19. Лукина К.А. Клинические и молекулярные факторы, ассоциированные с поражением костно-суставной системы при болезни Гоше I типа: дис. канд. мед. наук. 2013. 142 p.

20. Cox T.M., Schofield J.P. Gaucher's disease: Clinical features and natural history//Baillieres Clin Haematol. 1997.

21. Erikson A. Gaucher disease - Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.//Acta Paediatr Scand Suppl. 1986.

22. Grabowski G.A., Zimran A., Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry//American Journal of Hematology. 2015.

23. A. et al. 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.

24. Mankin H.J., Rosenthal D.I., Xavier R. Current concepts review gaucher disease: New approaches to an ancient disease: New approaches to an ancient disease//Journal of Bone and Joint Surgery - Series A. 2001.

25. Лукина Е.А. Болезнь Гоше: 10 лет спустя. Общество с ограниченной ответственностью "ПРАКТИЧЕСКАЯ МЕДИЦИНА," 2021. 56 p.

26. Zimran A. et al. Gaucher disease: Clinical, laboratory, radiologic, and genetic features of 53 patients//Medicine (United States). 1992.

27. Wenstrup R.J. et al. Skeletal aspects of Gaucher disease: A review//British Journal of Radiology. 2002.

28. Лукина К.А. Клинические и молекулярные факторы, ассоциированные с поражением костно-суставной системы при болезни Гоше I типа: дис. канд. мед. наук. 2013. 142 p.

29. Cox T.M., Schofield J.P. Gaucher's disease: Clinical features and natural history//Baillieres Clin Haematol. 1997.

30. Mariani S. et al. Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis//Acta Haematol. 2018.

31. Zimran A. How I treat Gaucher disease//Blood. 2011.

32. Santoro D., Rosenbloom B.E., Cohen A.H. Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy.//Am J Kidney Dis. 2002.

33. Becker-Cohen R. et al. A comprehensive assessment of renal function in patients with Gaucher disease//American Journal of Kidney Diseases. 2005.

34. Morimura Y. et al. Gaucher's disease, type I (adult type), with massive involvement of the kidneys and lungs//Virchows Archiv. 1994.

35. Chander P.N., Nurse H.M., Pirani C.L. Renal involvement in adult Gaucher's disease after splenectomy//Arch Pathol Lab Med. 1979.

36. Starosta R.T. et al. Liver involvement in patients with Gaucher disease types I and III//Mol Genet Metab Rep. 2020.

37. Пономарев Р.В., Модел С.В., Авербух О.М., Гаврилов А.М., Галстян Г.М., Лукина Е.А. Прогрессирующая легочная гипертензия у пациента с болезнью Гоше I типа//Терапевтический архив. 2017. Vol. 89, N 10. P. 71 - 74.

38. Cohen I.J., Yaniv I., Baris H. Diagnosis of severe Type 1 Gaucher's disease before irreversible damage occurs: iiiis HDL cholesterol the answer?: Correspondence//British Journal of Haematology. 2010. Vol. 150, N 1.

39. de Fost M. et al. Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease//Atherosclerosis. 2009. Vol. 204, N 1. P. 267 - 272.

40. Le N.A. et al. Abnormalities in lipoprotein metabolism in Gaucher type 1 disease//Metabolism. 1988.

41. M. et al. Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review//Orphanet Journal of Rare Diseases. 2019.

42. Stein P. et al. Hyperferritinemia and iron overload in type 1 Gaucher disease//Am J Hematol. 2010.

43. Regenboog M. et al. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications//Blood Rev. Elsevier Ltd, 2016. Vol. 30, N 6. P. 431 - 437.

44. Zimran A. How I treat Gaucher disease//Blood. 2011. Vol. 118, N 6. P. 1463 - 1471.

45. Zimran A. et al. Survey of hematological aspects of Gaucher disease//Hematology. 2005. Vol. 10, N 2.

46. Deghady A. et al. Coagulation abnormalities in type 1 Gaucher disease in children//Pediatr Hematol Oncol. 2006.

47. G. et al. Coagulopathy in Gaucher disease.//Indian journal of pediatrics. 1998.

48. Billett H.H., Rizvi S., Sawitsky A. Coagulation abnormalities in patients with Gaucher's disease: Effect of therapy//Am J Hematol. 1996. Vol. 51, N 3.

49. Mitrovic M. et al. Haemostatic abnormalities in treatment-nave patients with Type 1 Gaucher's disease//Platelets. 2012. Vol. 23, N 2.

50. ДАВЫДКИН И.Л. Х.Р.К., Д.О.Е., К.И.В., Н.Л.А., С.Т.Ю., К.С.П. БОЛЕЗНЬ ГОШЕ: ЧТО НУЖНО ЗНАТЬ ПРАКТИЧЕСКОМУ ВРАЧУ?//УПРАВЛЕНИЕ КАЧЕСТВОМ МЕДИЦИНСКОЙ ПОМОЩИ. 2012. N 1. P. 28 - 33.

51. Fan L., Li C., Zhao H. Prevalence and Risk Factors of Cytopenia in HIV-Infected Patients before and after the Initiation of HAART//Biomed Res Int. 2020.

52. Furrer H. Prevalence and clinical significance of splenomegaly in asymptomatic human immunodeficiency virus type 1-infected adults//Clinical Infectious Diseases. 2000.

53. Jiang H. et al. Relationship between Hepatitis B virus infection and platelet production and dysfunction//Platelets. 2022.

54. Ramos-Casals M. et al. Severe autoimmune cytopenias in treatment-naive hepatitis C virus infection clinical description of 35 cases//Medicine. 2003.

55. Singh A.E., Romanowski B. Syphilis: Review with emphasis on clinical, epidemiologic, and some biologic features//Clinical Microbiology Reviews. 1999.

56. Arends M. et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature//Br J Haematol. 2013.

57. Santoro D., Rosenbloom B.E., Cohen A.H. Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy.//Am J Kidney Dis. 2002.

58. Ivanova M. et al. Gaucheromas: When macrophages promote tumor formation and dissemination//Blood Cells Mol Dis. 2018.

59. Baldini M. et al. Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density//Blood Cells Mol Dis. 2018.

60. Simpson W.L. Imaging of gaucher disease//World J Radiol. 2014.

61. Соловьева А.А. Костина И.Э., Пономарев Р.В., Лукина Е.А., Мамонов В.Е., Яцык Г.А., Сысоева Е.П. БОЛЕЗНЬ ГОШЕ: ЛУЧЕВАЯ ДИАГНОСТИКА КОСТНЫХ ПРОЯВЛЕНИЙ. Москва: ООО "Издательская группа "ГЭОТАР-Медиа," 2024.

62. Andrade-Campos M. et al. The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises//Blood Cells Mol Dis. 2018.

63. Ponomarev R. V. et al. Progressive pulmonary hypertension in a patient with type 1 Gaucher disease//Ter Arkh. 2017.

64. Solanich X. et al. Myocardial infiltration in Gaucher's disease detected by cardiac MRI//Int J Cardiol. 2012.

65. Elstein D. et al. Echocardiographic assessment of pulmonary hypertension in Gaucher's disease//Lancet. 1998.

66. Bandyopadhyay R., Bandyopadhyay S., Maity P.K. Gaucher's disease presenting with portal hypertension//Indian Pediatr. 2011.

67. Kim Y.M. et al. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: Comparison of eliglustat tartrate treatment and enzyme replacement therapy//BMC Med Genet. 2017. Vol. 18, N 1.

68. Simpson W.L. Imaging of gaucher disease//World J Radiol. 2014.

69. Lebel E. et al. Bone density changes with enzyme therapy for Gaucher disease//J Bone Miner Metab. 2004.

70. de Farias L. de P.G. et al. Pulmonary involvement in gaucher disease//Radiologia Brasileira. 2017.

71. Hurvitz N. et al. Glucosylsphingosine (Lyso-gb1) as a biomarker for monitoring treated and untreated children with gaucher disease//Int J Mol Sci. 2019. Vol. 20, N 12. P. 1 - 9.

72. Rolfs A. 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.

73. Murugesan V. et al. Glucosylsphingosine is a key biomarker of Gaucher disease//Am J Hematol. 2016. Vol. 91, N 11. P. 1082 - 1089.

74. Savostyanov K. et al. Glucosylfingosine (Lyso-GL1) may be the primary biomarker for screening Gaucher disease in Russian patients//Mol Genet Metab. 2019.

75. Baldini M. et al. Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density//Blood Cells Mol Dis. 2018.

76. Andrade-Campos M. et al. The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises//Blood Cells Mol Dis. 2018.

77. Mikosch P., Hughes D. An overview on bone manifestations in Gaucher disease//Wiener Medizinische Wochenschrift. 2010.

78. Mullin S. et al. Neurological effects of glucocerebrosidase gene mutations//European Journal of Neurology. 2019.

79. Simchen M.J. et al. Impaired platelet function and peripartum bleeding in women with Gaucher disease//Thromb Haemost. 2011.

80. Geens S., Kestelyn P., Claerhout I. Corneal manifestations and in vivo confocal microscopy of gaucher disease//Cornea. 2013.

81. Starosta R.T. et al. Liver involvement in patients with Gaucher disease types I and III//Mol Genet Metab Rep. 2020.

82. Khan A. et al. Middle-ear involvement in type i Gaucher's disease - A unique case//Journal of Laryngology and Otology. 2013.

83. M. et al. Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review//Orphanet Journal of Rare Diseases. 2019.

84. Levy-Lahad E., Zimran A. Gaucher's disease: Genetic counselling and population screening//Baillieres Clin Haematol. 1997.

85. Starzyk K. et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease//Mol Genet Metab. 2007. Vol. 90, N 2. P. 157 - 163.

86. Biegstraaten M. et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease//Blood Cells Mol Dis. 2018.

87. Serratrice C. et al. Imiglucerase in the management of Gaucher disease type 1: An evidence-based review of its place in therapy//Core Evid. 2016. Vol. 11. P. 37 - 47.

88. Shemesh E. et al. Enzyme replacement and substrate reduction therapy for Gaucher disease//Cochrane Database of Systematic Reviews. 2015.

89. Cox T.M. Recommendations for treating patients with Gaucher disease with emerging enzyme products//Blood Cells, Molecules, and Diseases. 2010.

90. Van Rossum A., Holsopple M. Enzyme replacement or substrate reduction? A review of gaucher disease treatment options//Hospital Pharmacy. 2016. Vol. 51, N 7.

91. Weinreb N. et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase//Am J Hematol. 2008. Vol. 83, N 12.

92. Ponomarev R. V. et al. REDUCED DOSING REGIMEN OF ENZYME REPLACEMENT THERAPY IN ADULT PATIENTS WITH TYPE I GAUCHER DISEASE: PRELIMINARY RESULTS//Russian journal of hematology and transfusiology. 2019.

93. Zimran A. et al. Replacement therapy with imiglucerase for type 1 Gaucher's disease//The Lancet. 1995. Vol. 345, N 8963.

94. Zimran A. et al. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase//Am J Hematol. 2013. Vol. 88, N 3. P. 172 - 178.

95. Pastores G.M. et al. Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase//Am J Hematol. 2016. Vol. 91, N 7.

96. Lukina E. et al. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1//Blood. 2010.

97. Lukina E. et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-Year results of a phase 2 study//Blood. 2010.

98. Cox T.M. et al. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy//Blood. 2017.

99. Mistry P.K. et al. Outcomes after 18 months of eliglustat therapy in adults with Gaucher disease type 1: The phase 3 ENGAGE trial//Am J Hematol. 2017.

100. Soloveva A.A. et al. Differential radiological diagnosis of tuberculous sacroiliitis and bone involvement in Gaucher disease: A clinical case//Ter Arkh. 2019.

101. Lukina A.E. et al. Tuberculous sacroiliitis in a patient with Gaucher disease//Ter Arkh. 2013.

102. Lebel E. et al. Outcome of total hip arthroplasty in patients with Gaucher disease//Journal of Arthroplasty. 2001.

103. Itzchaki M. et al. Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy//Acta Orthopaedica Scandinavica. 2004.

104. Madara K.C. et al. PROGRESSIVE REHABILITATION AFTER TOTAL HIP ARTHROPLASTY: A PILOT AND FEASIBILITY STUDY//Int J Sports Phys Ther. 2019.

105. Paunescu F., Didilescu A., Antonescu M. Does Physiotherapy Contribute to the Improvement of Functional Results and of Quality of Life after Primary Total Hip Arthroplasty?//Maedica - a Journal of Clinical Medicine Maedica A Journal of Clinical Medicine MAEDICA - a Journal of Clinical Medicine Maedica A Journal of Clinical Medicine. 2014.

106. Samuels N. et al. Acupuncture for symptoms of Gaucher disease//Complement Ther Med. 2012.

107. Altarescu G. Prevention is the Best Therapy: The Geneticist's Approach//Pediatr Endocrinol Rev. 2016.

108. Yoshida S. et al. Prenatal diagnosis of Gaucher disease using next-generation sequencing//Pediatrics International. 2016.

109. Regenboog M. et al. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications//Blood Reviews. 2016.

110. Becker-Cohen R. et al. A comprehensive assessment of renal function in patients with Gaucher disease//American Journal of Kidney Diseases. 2005.

111. Lau H. et al. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey//Blood Cells Mol Dis. 2018.