только для медицинских специалистов

Консультант врача

Электронная медицинская библиотека

Раздел 4 / 10
Страница 1 / 1

Список литературы

  1. Ворробьев А.И. Руководство по гематологии. T. 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, № 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. Tylki-Szymańska 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, № 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, № 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, № 1. P. 267–272.
  40. Le N.A. et al. Abnormalities in lipoprotein metabolism in Gaucher type 1 disease // Metabolism. 1988.
  41. Kałużna 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, № 6. P. 431–437.
  44. Zimran A. How I treat Gaucher disease // Blood. 2011. Vol. 118, № 6. P. 1463–1471.
  45. Zimran A. et al. Survey of hematological aspects of Gaucher disease // Hematology. 2005. Vol. 10, № 2.
  46. Deghady A. et al. Coagulation abnormalities in type 1 Gaucher disease in children // Pediatr Hematol Oncol. 2006.
  47. Öztürk 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, № 3.
  49. Mitrovic M. et al. Haemostatic abnormalities in treatment-nave patients with Type 1 Gaucher’s disease // Platelets. 2012. Vol. 23, № 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. № 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, № 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, № 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, № 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. Kałużna 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, № 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, № 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, № 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, № 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, № 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, № 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 treatment-naïve 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.