Mohamed El Sayed

19 General introduction and thesis outline 39. Linhart, A., et al., Cardiac manifestations in Fabry disease. Journal of Inherited Metabolic Disease, 2001. 24(2): p. 75-83. 40. Fernández, A. and J. Politei, Cardiac Manifestation of Fabry Disease: From Hypertrophic Cardiomyopathy to Early Diagnosis and Treatment in Patients Without Left Ventricular Hypertrophy. Journal of Inborn Errors of Metabolism and Screening, 2016. 4. 41. Linhart, A., et al., New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J, 2000. 139(6): p. 1101-8. 42. Moon, J.C., et al., Gadolinium enhanced cardiovascular magnetic resonance in Anderson- Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J, 2003. 24(23): p. 2151-5. 43. Frustaci, A., et al., Microvascular angina as prehypertrophic presentation of Fabry disease cardiomyopathy. Circulation, 2014. 130(17): p. 1530-1. 44. Chimenti, C., et al., Angina in fabry disease reflects coronary small vessel disease. Circ Heart Fail, 2008. 1(3): p. 161-9. 45. Wilson, H.C., et al., Arrhythmia and Clinical Cardiac Findings in Children With Anderson- Fabry Disease. Am J Cardiol, 2017. 120(2): p. 251-255. 46. Baig, S., et al., Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice. Europace, 2017. 47. Liu, D., et al., Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease. Open Heart, 2018. 5(2): p. e000803. 48. Sene, T., et al., Cardiac device implantation in Fabry disease: A retrospective monocentric study. Medicine (Baltimore), 2016. 95(40): p. e4996. 49. Eng, C.M., et al., Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med, 2001. 345(1): p. 9-16. 50. Kramer, J., et al., Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol, 2014. 114(6): p. 895-900. 51. Weidemann, F., et al., Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation, 2009. 119(4): p. 524-9. 52. 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. 53. van der Veen, S.J., et al., Developments in the treatment of Fabry disease. J Inherit Metab Dis, 2020. 43(5): p. 908-921. 54. Linhart, A. and P.M. Elliott, The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart, 2007. 93(4): p. 528-35. 55. Desnick, R.J., Y.A. Ioannou, and C.M. Eng, α-Galactosidase A Deficiency: Fabry Disease, in The Online Metabolic and Molecular Bases of Inherited Disease, A.L. Beaudet, et al., Editors. 2014, The McGraw-Hill Companies, Inc.: New York, NY. 56. Young, E., et al., Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl, 2005. 94(447): p. 51-4; discussion 37-8. 57. Nowak, A., et al., Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab, 2018. 123(2): p. 148-153. 1

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