Mohamed El Sayed

175 Plasma globotriaosylsphingosine and the natural Fabry disease course References 1. Arends, M.; Wanner, C.; Hughes, D.; Mehta, A.; Oder, D.; Watkinson, O.T.; Elliott, P.M.; Linthorst, G.E.; Wijburg, F.A.; Biegstraaten, M.; et al., Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol, 2017. 28(5): p. 16311641. 2. El Sayed, M.; Hirsch, A.; Boekholdt, M.; van Dussen, L.; Datema, M.; Hollak, C.; Langeveld, M., Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease. Heart, 2021. 107(23): p. 1889-1897. 3. Najafian, B.; Svarstad, E.; Bostad, L.; Gubler, M.C.; Tondel, C.; Whitley, C.; Mauer, M., Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int, 2011. 79(6): p. 663-670. 4. Sanchez-Nino, M.D.; Sanz, A.B.; Carrasco, S.; Saleem, M.A.; Mathieson, P.W.; Valdivielso, J.M.; Ruiz-Ortega, M.; Egido, J.; Ortiz, A., Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant, 2011. 26(6): p. 1797-1802. 5. Tuttolomondo, A.; Pecoraro, R.; Simonetta, I.; Miceli, S.; Arnao, V.; Licata, G.; Pinto, A., Neurological complications of Anderson-Fabry disease. Curr Pharm Des, 2013. 19(33): p. 6014-6030. 6. van der Veen, S.J.; Korver, S.; Hirsch, A.; Hollak, C.E.M.; Wijburg, F.A.; Brands, M.M.; Tondel, C.; van Kuilenburg, A.B.P.; Langeveld, M., Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. Mol Genet Metab, 2022. 135(2): p. 163-169. 7. Spada, M.; Baron, R.; Elliott, P.M.; Falissard, B.; Hilz, M.J.; Monserrat, L.; Tondel, C.; TylkiSzymanska, A.; Wanner, C.; Germain, D.P., 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. 126(3): p. 212-223. 8. Tondel, C.; Bostad, L.; Larsen, K.K.; Hirth, A.; Vikse, B.E.; Houge, G.; Svarstad, E., Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol, 2013. 24(1): p. 137-148. 9. Arends, M.; Biegstraaten, M.; Hughes, D.A.; Mehta, A.; Elliott, P.M.; Oder, D.; Watkinson, O.T.; Vaz, F.M.; van Kuilenburg, A.B.P.; Wanner, C.; et al., Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS One, 2017. 12(8): p. e0182379. 10. Arends, M.; Wijburg, F.A.; Wanner, C.; Vaz, F.M.; van Kuilenburg, A.B.P.; Hughes, D.A.; Biegstraaten, M.; Mehta, A.; Hollak, C.E.M.; Langeveld, M., Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. Mol Genet Metab, 2017. 121(2): p. 157- 161. 11. Banikazemi, M.; Bultas, J.; Waldek, S.; Wilcox, W.R.; Whitley, C.B.; McDonald, M.; Finkel, R.; Packman, S.; Bichet, D.G.; Warnock, D.G.; et al., Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med, 2007. 146(2): p. 77-86. 12. Weidemann, F.; Niemann, M.; Stork, S.; Breunig, F.; Beer, M.; Sommer, C.; Herrmann, S.; Ertl, G.; Wanner, C., Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med, 2013. 274(4): p. 331-341. 5

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