176 Chapter 5 13. Korver, S.; Longo, M.G.F.; Lima, M.R.; Hollak, C.E.M.; El Sayed, M.; van Schaik, I.N.; Vedolin, L.; Dijkgraaf, M.G.W.; Langeveld, M., Determinants of cerebral radiological progression in Fabry disease. J Neurol Neurosurg Psychiatry, 2020. 91(7): p. 756-763. 14. Nowak, A.; Mechtler, T.P.; Hornemann, T.; Gawinecka, J.; Theswet, E.; Hilz, M.J.; Kasper, D.C., Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab, 2018. 123(2): p. 148-153. 15. Smid, B.E.; van der Tol, L.; Biegstraaten, M.; Linthorst, G.E.; Hollak, C.E.; Poorthuis, B.J., Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet, 2015. 52(4): p. 262-268. 16. Lavalle, L.; Thomas, A.S.; Beaton, B.; Ebrahim, H.; Reed, M.; Ramaswami, U.; Elliott, P.; Mehta, A.B.; Hughes, D.A., Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. PLoS One, 2018. 13(4): p. e0193550. 17. Rombach, S.M.; Dekker, N.; Bouwman, M.G.; Linthorst, G.E.; Zwinderman, A.H.; Wijburg, F.A.; Kuiper, S.; Vd Bergh Weerman, M.A.; Groener, J.E.; Poorthuis, B.J.; et al., Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta, 2010. 1802(9): p. 741-748. 18. Nowak, A.; Beuschlein, F.; Sivasubramaniam, V.; Kasper, D.; Warnock, D.G., Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. J Med Genet, 2022. 59(3): p. 287-293. 19. Gold, H.; Mirzaian, M.; Dekker, N.; Joao Ferraz, M.; Lugtenburg, J.; Codee, J.D.; van der Marel, G.A.; Overkleeft, H.S.; Linthorst, G.E.; Groener, J.E.; et al., Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry. Clin Chem, 2013. 59(3): p. 547-556. 20. Fazekas, F.; Chawluk, J.B.; Alavi, A.; Hurtig, H.I.; Zimmerman, R.A., MR signal abnormalities at 1.5 T in Alzheimer’s dementia and normal aging. AJR Am J Roentgenol, 1987. 149(2): p. 351-356. 21. Baba, M.; Shimbo, T.; Horio, M.; Ando, M.; Yasuda, Y.; Komatsu, Y.; Masuda, K.; Matsuo, S.; Maruyama, S.,Longitudinal Study of the Decline in Renal Function in Healthy Subjects. PLoS One, 2015. 10(6): p. e0129036. 22. Lang, R.M.; Badano, L.P.; Mor-Avi, V.; Afilalo, J.; Armstrong, A.; Ernande, L.; Flachskampf, F.A.; Foster, E.; Goldstein, S.A.; Kuznetsova, T.; et al., Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging, 2015. 16(3): p. 233-270. 23. Pieske, B.; Tschope, C.; de Boer, R.A.; Fraser, A.G.; Anker, S.D.; Donal, E.; Edelmann, F.; Fu, M.; Guazzi, M.; Lam, C.S.P.; et al., How to diagnose heart failure with preserved ejection fraction: the HFA-PEFF diagnostic algorithm: a consensus recommendation from the Heart Failure Association (HFA) of the European Society of Cardiology (ESC). Eur Heart J, 2019. 40(40): p. 3297-3317. 24. Nagueh, S.F.; Smiseth, O.A.; Appleton, C.P.; Byrd, B.F., 3rd; Dokainish, H.; Edvardsen, T.; Flachskampf, F.A.; Gillebert, T.C.; Klein, A.L.; Lancellotti, P.; et al., Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography: An Update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging, 2016. 17(12): p. 1321-1360.
RkJQdWJsaXNoZXIy MTk4NDMw