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Kotalevskaya Yu.Yu.

M.F. Vladimirsky Moscow Regional Research Clinical Institute

It’s not uncommon anymore

Authors:

Kotalevskaya Yu.Yu.

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Journal: Non Nocere. New Therapeutic Journal. 2024;(9): 72‑77

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To cite this article:

Kotalevskaya YuYu. It’s not uncommon anymore. Non Nocere. New Therapeutic Journal. 2024;(9):72‑77. (In Russ.)

 
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Abstract:

I have Fabry disease?

Authors:

Kotalevskaya Yu.Yu.

M.F. Vladimirsky Moscow Regional Research Clinical Institute

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References:

  1. Federal Law No. 323-FZ of November 21, 2011 “On the Fundamentals of Health Protection of Citizens in the Russian Federation”. https://minzdrav.gov.ru/documents/7025
  2. National Institute of Health. Public Law 97-414 97th Congress. – Jan 4, 1983. https://www.fda.gov/media/99546/download
  3. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2017 Jan 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. https://www.ncbi.nlm.nih.gov/books/NBK1504/
  4. Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019 Jun;179(6):885-892.  https://doi.org/10.1002/ajmg.a.61124
  5. Angural A, Spolia A, Mahajan A, et al. Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India. Front Genet. 2020 Apr 30;11:415.  https://doi.org/10.3389/fgene.2020.00415
  6. Black N, Martineau F, Manacorda T. Diagnostic Odyssey for Rare Diseases: Exploration of Potential Indicators. Policy Innovation Research Unit. 2015;1-65. 
  7. Glob. Comm. End Diagn. Odyssey Child. Rare Dis. 2019. Global Commission year one report. Rep., Glob. Comm. End Diagn. Odyssey Child. Rare Dis.  https://globalrarediseasecommission.com/Report
  8. Ruiter MA, Pompen WM, Wyers HJG. Uber interne und pathologisch-anatomische Befunde bei Angiokeratoma corporis diffusum (Fabry). Dermatologica. 1947;94:1-12. 
  9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-254.  https://doi.org/10.1001/jama.281.3.249
  10. Desnick RJ, Wasserstein MP, Banikazemi M. Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy. Contrib Nephrol. 2001;(136):174-192.  https://doi.org/10.1159/000060184
  11. Chen KH, Chien Y, Wang KL, et al. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy. Can J Cardiol. 2016 Oct;32(10):1221.e1-1221.e9.  https://doi.org/10.1016/j.cjca.2015.10.033
  12. Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep. 2020 Jan 11;22:100562. https://doi.org/10.1016/j.ymgmr.2019.100562
  13. Moiseev S.V. Report. Second Eurasian Forum on diagnostics and treatment of orphan diseases “Commonwealth without borders”. October 25-26, 2023.
  14. Popli S, Leehey DJ, Molnar ZV, Nawab ZM, Ing TS. Demonstration of Fabry’s disease deposits in placenta. Am J Obstet Gynecol. 1990 Feb;162(2):464-465.  https://doi.org/10.1016/0002-9378(90)90410-9
  15. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.  https://doi.org/10.1186/1750-1172-5-30
  16. Ramaswami U, Beck M, Hughes D, et al. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: a 10- year Fabry Outcome Survey (FOS) analysis. Drug Des Devel Ther. 2019 Oct 25;13:3705-3715. https://doi.org/10.2147/DDDT.S207856
  17. Wanner C, Feldt-Rasmussen U, Jovanovic A, et al. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis. ESC Heart Fail. 2020 Jun;7(3):825-834.  https://doi.org/10.1002/ehf2.12647
  18. Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008 Feb;17(1):79-83.  https://doi.org/10.1007/s10897-007-9128-x
  19. Moiseev S.V., Tao E.A., Moiseev A.S., et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. Clin Pharmacol Ter. 2021;30(3):43-51.  https://doi.org/10.32756/0869-5490-2021-3-43-51
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