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Page 20 of 29               Aguiar. Rare Dis Orphan Drugs J 2024;3:13  https://dx.doi.org/10.20517/rdodj.2023.56

               DECLARATIONS
               Authors contributions
               The author contributed solely to the article.


               Availability of data and materials
               My PhD thesis was related to biomarkers in AFD and this similarity is due to my own work.


               Financial support and sponsorship
               Grant  research support from Takeda. Honoraria from Takeda, Sanofi, Biomarin, Ultragenyx, Alexion,
               Amicus and Chiesi.

               Conflicts of interest
               The author declared that there are no conflicts of interest.

               Ethical approval and consent to participate
               Not applicable.

               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2024.


               REFERENCES
               1.       da Terra Aguiar PR. Early markers of heart and kidney damage in Fabry disease. 2018. Available from: https://core.ac.uk/download/
                    pdf/223237226.pdf [Last accessed on 19 Apr 2024].
               2.       Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin
                    Pharmacol Ther 2001;69:89-95.  DOI
               3.       Aerts JM, Kallemeijn WW, Wegdam W, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and
                    inhibodies. J Inherit Metab Dis 2011;34:605-19.  DOI  PubMed  PMC
               4.       Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of
                    female carriers. Clin Chim Acta 2005;353:201-3.  DOI  PubMed
               5.       Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that
                    causes pseudodeficient activity in plasma. Mol Genet Metab 2003;80:307-14.  DOI  PubMed
               6.       Gaspar P, Herrera J, Rodrigues D, et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med
                    Genet 2010;11:19.  DOI  PubMed  PMC
               7.       Gal A, Hughes DA, Winchester B. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a
                    European expert group. J Inher Metab Disea 2011;34:509-14.  DOI  PubMed  PMC
               8.       Smid B, Hollak C, Poorthuis B, et al. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown
                    clinical significance. Clin Genet 2015;88:161-6.  DOI
               9.       Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of α-galactosidase a activity and
                    genetic mutations on clinical course. Medicine 2002;81:122-38.  DOI
               10.       Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of
                    Fabry disease in females in the Fabry outcome survey. J Med Genet 2006;43:347-52.  DOI  PubMed  PMC
               11.       Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome
                    survey. Eur J Clin Invest 2004;34:236-42.  DOI
               12.       Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and
                    cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11.  DOI  PubMed  PMC
               13.       Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-
                    galactosidase, and clinical and biochemical phenotypes. Hum Genet 2005;117:317-28.  DOI  PubMed
               14.       Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet
                    2016;89:44-54.  DOI
               15.       Gubler M, Lenoir G, Grünfeld J, et al. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int
                    1978;13:223-35.  DOI
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