только для медицинских специалистов
Консультант врача. Электронная медицинская библиотека

Консультант врача

Электронная медицинская библиотека

Доступ к библиотеке Версия для слабовидящих
Раздел 4 / 10
Страница 1 / 1

Список литературы

  1. Germain D.P. Fabry disease//Orphanet J Rare Dis. 2010. V.22. P. 5-30.
  2. Spada M., Pagliardini S. et al. High incidence of later-onset Fabry disease revealed by newborn screening// Am J Hum Genet. 2006. V.79. P. 31-40.
  3. Hwu W.L., Chien Y.H. et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G > A (IVS4+919G > A)// Hum Mutat. 2009. V.30. P.1397-1405.
  4. Elstein D., Altarescu Gh. et al. Fabry disease// Springer Science & Business Media. 2010.
  5. Hopkin R.J., Bissler J. et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry// Pediatr Res. 2008. V. 64. P. 550-5.
  6. Hoffmann B., Beck M. et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy–a retrospective analysis from the Fabry Outcome Survey// Clin J Pain. 2007. V.23. P.535-42.
  7. Sims K., Politei J. et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry// Stroke. 2009. V.40. P.788-94.
  8. Mehta A., Clarke J.T. et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey//J Med Genet. 2009.V.46. P.548-52.
  9. Ryan P. Morrissey. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy// Cardiovasc J Afr. 2011. V. 22. №1. P. 38–44.
  10. Sakuraba H., Togawa T., Tsukimura T. et al. Plasma lyso-Gb3: a biomarker for monitoring Fabry patients during enzyme replacement therapy// Clin Exp Nephrol. 2018. V.22. №4. P. 843-9.
  11. Schiffmann R., Warnock D.G. et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy// Nephrol Dial Transplant. 2009. V.24. №7. P. 2102–2111.
  12. Linhart A., Kampmann C., Zamorano J.L. et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey// Eur Heart J. 2007. V.28. P.1228– 1235.
  13. Weidemann F., Breunig F., Beer M. et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease// Eur Heart J. 2005. V. 26. P.1221–7.
  14. Gupta S., Ries M. et al. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women// Medicine (Baltimore). 2005. V.84. №5. P. 261-8.
  15. Cordeiro C.A., Oréfice F. et al. Córnea verticilata - marcador clínico da doença de Fabry: relato de caso// Arq Bras Oftalmol. 2007. V.70. №4. P.701-5.
  16. Mayes J.S., Scheerer J.B. et al. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease// Clin Chim Acta. 1981.V. 112. P.247-251.
  17. Linthorst G.E., Vedder A.C., Aerts J.M., Hollak C.E. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers// Clin Chim Acta. 2005. V.353. P.201-3.
  18. Linthorst G.E., Bouwman M.G., Wijburg F.A.et al. Screening for Fabry disease in high-risk populations: a systematic review//Journal of Medical Genetics. 2010. V.47. P.217-22.
  19. Keating G.M. Agalsidase alfa: a review of its use in the management of Fabry disease// BioDrugs. 2012. V.26. №5. P.335-54.
  20. Keating G.M., Simpson D. Agalsidase Beta: a review of its use in the management of Fabry disease// Drugs. 2007. V.67. №3. P.435-55.
  21. Schiffmann R. Agalsidase treatment for Fabry disease: uses and rivalries// Genet Med. 2010. V.12. №11. P.684-5.
  22. Banikazemi M., Bultas J. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial//Ann Intern Med. 2007. V.146. №2. P.77-86.
  23. Tøndel C., Bostad L. et al. Agalsidase benefits renal histology in young patients with Fabry disease// J Am Soc Nephrol. 2013. V.24. №1. P.137-48.
  24. Warnock D.G., Ortiz A. et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation// Nephrol Dial Transplant. 2012.V. 27. №3. P.1042-9.
  25. Bénichou B., Goyal S. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease// Mol Genet Metab. 2009. V.96. №1. P.4-12.
  26. Ortiz A., Germain D.P., Desnick R.J. et al. Fabry disease revisited: Management and treatment recommendations for adult patients// Molecular Genetics and Metabolism. 2018. V.123. №4. P. 416-27.
  27. Mehta A., West M.L. Therapeutic goals in the treatment of Fabry disease// Genet Med. 2010. V.12. №11. P.713-20.
  28. Laney D.A., Bennett R.L., Clarke V. et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors// J Genet Couns. 2013. V.22. №5. P.555-64.
  29. Desnick R.J., Brady R., Barranger J. et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy// Ann Intern Med. 2003. V.138. №4. P.338-46.
  30. Polo G., Burlina A., Ranieri E. et al. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study// Clinical Chemistry and Laboratory Medicine (CCLM). 2019. V.57. №12. P.1863-74.
  31. Mariëlle J. van Breemen et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy// Biochimica et Biophysica Acta. 2011.V.1812. P. 70–76.
  32. Lenders M., Canaan-Kühl S. et al. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch–2-Year Follow-Up// J Am Soc Nephrol. 2016. V.27. P. 952– 962.
  33. Goker-Alpan O., Gambello M. J. et al. Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease// JIMD Rep. 2015.V.25. P. 95-106.
  34. Beck M., Hughes D. et al. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis// Mol Genet Metab Rep. 2015. V.3. P.21-7.
  35. Politei J.M., Bouhassira D., Germain D.P. et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment// CNS Neuroscience and therapeutics. 2016. V.22. P. 568-576.
  36. Shi Q., Chen J., Pongmoragot J. et al. Prevalence of Fabry disease in stroke patients – a systematic review and meta-analysis// J. Stroke cerebrovasc. Dis. 2014.V. 23. №5. P.985-92.
  37. Fuller M. et al. Immunoquantification of α-galactosidase: evaluation for the diagnosis of Fabry disease //Clinical chemistry. 2004. V.50. №.11. P.1979-85.
  38. Kramer J., Weidemann F. Biomarkers for diagnosing and staging of Fabry disease //Current medicinal chemistry. 2018. V. 25. №13. P.1530-7.
  39. Rombach S. M. et al. The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease //Nephrology Dialysis Transplantation. 2010. V. 25. № 8. P. 2549-56.
  40. Körver S. et al. Development and clinical consequences of white matter lesions in Fabry disease: a systematic review //Molecular genetics and metabolism. 2018. V. 125. № 3. P. 205-216.
  41. van den Boomen M. et al. Native T1 reference values for nonischemic cardiomyopathies and populations with increased cardiovascular risk: A systematic review and meta‐analysis //Journal of Magnetic Resonance Imaging. 2018. V. 47. № 4. P. 891-912.
  42. Van der Tol L., Sminia M. L., Hollak C. E. M., Biegstraaten M. Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review// British Journal of Ophthalmology.2015. V.100. № 1. P. 3–8. doi:10.1136/bjophthalmol-2014-306433
  43. Mohr J.P. Stroke: pathophysiology, diagnosis and management// Elsevier, sixth edition, 2016.
  44. Alegra T., Vairo F., de Souza M.V. et al., Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis// Genet Mol Biol. 2012.V.35. P.947-54.
  45. Spada M., Baron R., Elliott P.M. et al. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts// Mol Genet Metab. 2019. V.126. №3.P.212-23.
  46. Germain D.P., Elliott P.M., Falissard B. et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts// Mol Genet Metab Rep. 2019. V.19. P.100454.
  47. Germain D.P., Arad M., Burlina A. et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts// Mol Genet Metab. 2018. V.126. №3.P.224-35.
  48. Biegstraaten M. et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document// Orphanet J Rare Dis. 2015. V.10. P.36.
  49. Ramaswami U., Whybra C., Parini R. et al. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey//Acta Paediatr. 2006. V.95. №1. P.86–92.
  50. El Dib R., Gomaa H., Ortiz A. et.al. Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies// PLoS ONE. 2017. V.12. №3. P. e0173358.
  51. Schuller Y. et al. Pain management strategies for neuropathic pain in Fabry disease-a systematic review //BMC neurology. 2016. V.16. №1. P. 25.
  52. Ersözlü S. et al. Long-Term Outcomes of Kidney Transplantation in Fabry Disease //Transplantation. 2018. V. 102. № 11. P. 1924-33.
  53. Di L. Z. et al. Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐ sectional study //Clinical cardiology. 2018. V. 41. №. 9. P. 1207-13.
  54. Morais P. et al. Angiokeratomas of Fabry successfully treated with intense pulsed light //Journal of Cosmetic and Laser Therapy. 2008. V. 10. №4. P. 218-22.
  55. Bolsover F. E. et al. Cognitive dysfunction and depression in Fabry disease: a systematic review //Journal of inherited metabolic disease. 2014. V. 37. № 2. P. 177-87.
  56. Favalli V. et al. Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics //Journal of the American College of Cardiology. 2016. V. 68. № 10. P. 1037-50.
  57. Sirrs M. et al. Outcomes of patients treated through the Canadian Fabry disease initiative //Molecular genetics and metabolism. 2014. V. 111. № 4. P. 499-506.

Для продолжения работы требуется вход / регистрация