Mohamed El Sayed

201 Summary and general discussion References 1. Arends, M., et al., Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol, 2017. 28(5): p. 1631-1641. 2. El Sayed, M., et al., Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease. Heart, 2021. 3. Lavalle, L., et al., Heterogeneity in Fabry disease. Molecular Genetics and Metabolism, 2017.120(1): p. S81. 4. Juchniewicz, P., et al., Dosage Compensation in Females with X-Linked Metabolic Disorders. Int J Mol Sci, 2021. 22(9). 5. Nordin, S., et al., Cardiac Phenotype of Prehypertrophic Fabry Disease. Circ Cardiovasc Imaging, 2018. 11(6): p. e007168. 6. Nordin, S., et al., Proposed Stages of Myocardial Phenotype Development in Fabry Disease. JACC Cardiovasc Imaging, 2018. 7. Augusto, J.B., et al., The myocardial phenotype of Fabry disease pre-hypertrophy and pre- detectable storage. Eur Heart J Cardiovasc Imaging, 2020. 8. Niemann, M., et al., Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging, 2011. 4(6): p. 592-601. 9. Pica, S., et al., Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. J Cardiovasc Magn Reson, 2014. 16: p. 99. 10. Schiffmann, R., et al., Enzyme replacement therapy in Fabry disease: a randomized controlled trial. Jama, 2001. 285(21): p. 2743-9. 11. Ortiz, A., et al., Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab, 2018. 123(4): p. 416-427. 12. Morrissey, R.P., K.J. Philip, and E.R. Schwarz, Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovasc J Afr, 2011. 22(1): p. 38-44. 13. 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. 10: p. 36. 14. 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. 15. Azevedo, O., et al., Fabry Disease and the Heart: A Comprehensive Review. Int J Mol Sci, 2021. 22(9). 16. Beck, M., et al., Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet Journal of Rare Diseases, 2022. 17(1): p. 238. 17. van der Veen, S.J., et al., 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. 18. Barba-Romero, M.-Á. and G. Pintos-Morell, Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey. International Journal of Molecular Sciences, 2016. 17(12): p. 1965. 6

RkJQdWJsaXNoZXIy MTk4NDMw