86 Chapter 3 References 1. Brady, R.O., et al., Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med, 1967. 276(21): p. 1163-7. 2. Kint, J.A., Fabry’s disease: alpha-galactosidase deficiency. Science, 1970. 167(3922): p. 1268-9. 3. Ivanova, M., Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases. J Clin Med, 2020. 9(4). 4. Chimenti, C., et al., Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease. The American Journal of Pathology, 2008. 172(6): p. 1482-1490. 5. De Francesco, P.N., et al., Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab, 2013. 109(1): p. 93-9. 6. Rozenfeld, P. and S. Feriozzi, Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab, 2017. 122(3): p. 19-27. 7. Nordin, S., et al., Cardiac Phenotype of Prehypertrophic Fabry Disease. Circ Cardiovasc Imaging, 2018. 11(6): p. e007168. 8. Augusto, J.B., et al., The myocardial phenotype of Fabry disease pre-hypertrophy and pre- detectable storage. Eur Heart J Cardiovasc Imaging, 2020. 9. Smid, B.E., et al., Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet, 2015. 52(4): p. 262-8. 10. Arends, M., et al., Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol, 2017. 28(5): p. 1631-1641. 11. 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. 12. 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. 13. Smid, B.E., et al., Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol, 2014. 177(2): p. 400-8. 14. El Sayed, M., et al., Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease. Heart, 2021. 15. 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. 16. 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. 17. Patel, M.R., et al., Cardiovascular Events in Patients With Fabry Disease: Natural History Data From the Fabry Registry. Journal of the American College of Cardiology, 2011. 57(9): p. 1093-1099. 18. Mehta, J., et al., Electrocardiographic and vectorcardiographic abnormalities in Fabry’s disease. American Heart Journal, 1977. 93(6): p. 699-705.
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