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Germain D.P. Fabry disease//Orphanet J Rare Dis. 2010. V.22. P. 5-30.
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.
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.
Elstein D., Altarescu Gh. et al. Fabry disease// Springer Science & Business Media. 2010.
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.
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.
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.
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.
Ryan P. Morrissey. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy// Cardiovasc J Afr. 2011. V. 22. №1. P. 38–44.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Keating G.M. Agalsidase alfa: a review of its use in the management of Fabry disease// BioDrugs. 2012. V.26. №5. P.335-54.
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.
Schiffmann R. Agalsidase treatment for Fabry disease: uses and rivalries// Genet Med. 2010. V.12. №11. P.684-5.
Banikazemi M., Bultas J. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial//Ann Intern Med. 2007. V.146. №2. P.77-86.
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.
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.
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.
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.
Mehta A., West M.L. Therapeutic goals in the treatment of Fabry disease// Genet Med. 2010. V.12. №11. P.713-20.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Fuller M. et al. Immunoquantiﬁcation of α-galactosidase: evaluation for the diagnosis of Fabry disease //Clinical chemistry. 2004. V.50. №.11. P.1979-85.
Kramer J., Weidemann F. Biomarkers for diagnosing and staging of Fabry disease //Current medicinal chemistry. 2018. V. 25. №13. P.1530-7.
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.
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.
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.
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
Mohr J.P. Stroke: pathophysiology, diagnosis and management// Elsevier, sixth edition, 2016.
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.
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.
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.
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.
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.
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.
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.
Schuller Y. et al. Pain management strategies for neuropathic pain in Fabry disease-a systematic review //BMC neurology. 2016. V.16. №1. P. 25.
Ersözlü S. et al. Long-Term Outcomes of Kidney Transplantation in Fabry Disease //Transplantation. 2018. V. 102. № 11. P. 1924-33.
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.
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.
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.
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.
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.