Mohamed El Sayed

17 General introduction and thesis outline References 1. Kes, P., et al., [Anderson-Fabry disease]. Acta Med Croatica, 2006. 60(1): p. 55-8. 2. Germain, D.P., et al., Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. Clin Genet, 2022. 101(4): p. 390-402. 3. Brady, R.O., et al., Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med, 1967. 276(21): p. 1163-7. 4. Kint, J.A., Fabry’s disease: alpha-galactosidase deficiency. Science, 1970. 167(3922): p. 1268-9. 5. Zarate, Y.A. and R.J. Hopkin, Fabry’s disease. Lancet, 2008. 372(9647): p. 1427-35. 6. Sweeley, C.C. and B. Klionsky, FABRY’S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. J Biol Chem, 1963. 238: p. 3148-50. 7. Mehta, A., et al., Natural course of Fabry disease: changing pattern of causes of death in FOS- Fabry Outcome Survey. J Med Genet, 2009. 46(8): p. 548-52. 8. Mehta, A., et al., Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest, 2004. 34(3): p. 236-42. 9. Pieroni, M., et al., Progression of Fabry cardiomyopathy despite enzyme replacement therapy. Circulation, 2013. 128(15): p. 1687-8. 10. Nair, V., E.C. Belanger, and J.P. Veinot, Lysosomal storage disorders affecting the heart: a review. Cardiovasc Pathol, 2019. 39: p. 12-24. 11. Frustaci, A., et al., Pathology and function of conduction tissue in Fabry disease cardiomyopathy. Circ Arrhythm Electrophysiol, 2015. 8(4): p. 799-805. 12. Elleder, M., et al., Cardiocyte storage and hypertrophy as a sole manifestation of Fabry’s disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol, 1990. 417(5): p. 449-55. 13. Arends, M., 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. 14. Rombach, S.M., et al., Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet Journal of Rare Diseases, 2013. 8(1): p. 47. 15. Thurberg, B.L., et al., Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation, 2009. 119(19): p. 2561-7. 16. Lorenzen, J.M., et al., Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease. Basic Res Cardiol, 2013. 108(1): p. 311. 17. Schumann, A., et al., Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells. J Inherit Metab Dis, 2021. 44(4):p. 1039-1050. 18. Lucke, T., et al., Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab, 2004. 82(1): p. 93-7. 1

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