REFERENCES

1. da Terra Aguiar PR. Early markers of heart and kidney damage in Fabry disease. 2018. Available from: https://core.ac.uk/download/pdf/223237226.pdf [Last accessed on 19 Apr 2024].

2. Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther 2001;69:89-95.

3. Aerts JM, Kallemeijn WW, Wegdam W, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 2011;34:605-19.

4. Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005;353:201-3.

5. Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003;80:307-14.

6. Gaspar P, Herrera J, Rodrigues D, et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet 2010;11:19.

7. Gal A, Hughes DA, Winchester B. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inher Metab Disea 2011;34:509-14.

8. Smid B, Hollak C, Poorthuis B, et al. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. Clin Genet 2015;88:161-6.

9. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of α-galactosidase a activity and genetic mutations on clinical course. Medicine 2002;81:122-38.

10. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M. European FOS Investigators. Natural history of Fabry disease in females in the Fabry outcome survey. J Med Genet 2006;43:347-52.

11. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 2004;34:236-42.

12. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11.

13. Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 2005;117:317-28.

14. Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet 2016;89:44-54.

15. Gubler M, Lenoir G, Grünfeld J, et al. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 1978;13:223-35.

16. Najafian B, Svarstad E, Bostad L, et al. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 2011;79:663-70.

17. Tøndel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008;51:767-76.

18. Tøndel C, Bostad L, Larsen KK, et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013;24:137-48.

19. Tøndel C, Kanai T, Larsen KK, et al. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron 2015;129:16-21.

20. Wijburg FA, Bénichou B, Bichet DG, et al. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS One 2015;10:e0124987.

21. Biegstraaten M, Arngrimsson R, Barbey F, 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;10:36.

22. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9-16.

23. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008;94:153-8.

24. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.

25. Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-22.

26. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W. Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med 1971;284:739-44.

27. Vedder AC, Linthorst GE, van Breemen MJ, et al. The dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 2007;30:68-78.

28. Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005;94:51-4; discussion 37-8.

29. Auray-Blais C, Cyr D, Ntwari A, et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 2008;93:331-40.

30. Togawa T, Kodama T, Suzuki T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 2010;100:257-61.

31. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet 2015;52:262-8.

32. Whybra C, Kampmann C, Krummenauer F, et al. The mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299-307.

33. Auray-Blais C, Ntwari A, Clarke JT, et al. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta 2010;411:1906-14.

34. Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-57.

35. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006;21:345-54.

36. Whitfield PD, Calvin J, Hogg S, et al. Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J Inherit Metab Dis 2005;28:21-33.

37. Vedder AC, Breunig F, Donker-Koopman WE, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 2008;94:319-25.

38. Popli S, Leehey DJ, Molnar ZV, Nawab ZM, Ing TS. Demonstration of Fabry’s disease deposits in placenta. Am J Obstet Gynecol 1990;162:464-5.

39. Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 2006;29:106-11.

40. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008;105:2812-7.

41. Rombach SM, Dekker N, Bouwman MG, et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 2010;1802:741-8.

42. van Breemen MJ, Rombach SM, Dekker N, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 2011;1812:70-6.

43. Ouyang y, Chen B, Pan X, et al. Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Exper Ther Med 2018;15:3733-42.

44. Azevedo O, Gal A, Faria R, et al. Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype. Mol Genet Metab 2020;129:150-60.

45. Duro G, Zizzo C, Cammarata G, et al. Mutations in the GLA Gene and LysoGb3: is it really Anderson-Fabry disease? Int J Mol Sci 2018;19:3726.

46. Aguiar P, Azevedo O, Marino J, Soares JLD, Hughes D. Plasma lyso-Gb3 in Fabry disease: helpful distinguishing phenotypes, but not as predictor of organ involvement. Mol Genet Metab 2019;126:S20.

47. Alharbi FJ, Baig S, Auray-Blais C, et al. Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease. J Inherit Metab Dis 2018;41:239-47.

48. Lavalle L, Thomas AS, Beaton B, et al. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. PLoS One 2018;13:e0193550.

49. Nowak A, Mechtler TP, Hornemann T, et al. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Mol Genet Metab 2018;123:148-53.

50. Liao HC, Huang YH, Chen YJ, et al. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A). Clin Chim Acta 2013;426:114-20.

51. Talbot A, Nicholls K, Fletcher JM, Fuller M. A simple method for quantification of plasma globotriaosylsphingosine: utility for Fabry disease. Mol Genet Metab 2017;122:121-5.

52. Sakuraba H, Togawa T, Tsukimura T, Kato H. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. Clin Exp Nephrol 2018;22:843-9.

53. Nowak A, Mechtler TP, Desnick RJ, Kasper DC. Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Mol Genet Metab 2017;120:57-61.

54. Baydakova GV, Ilyushkina AA, Moiseev S, et al. α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females. Clin Chim Acta 2020;501:27-32.

55. Niemann M, Rolfs A, Störk S, et al. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet 2014;7:8-16.

56. Ferreira S, Auray-Blais C, Boutin M, et al. Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Clin Chim Acta 2015;447:96-104.

57. Sueoka H, Ichihara J, Tsukimura T, Togawa T, Sakuraba H. Nano-LC-MS/MS for quantification of Lyso-Gb3 and its analogues reveals a useful biomarker for Fabry disease. PLoS One 2015;10:e0127048.

58. Spada M, Kasper D, Pagliardini V, Biamino E, Giachero S, Porta F. Metabolic progression to clinical phenotype in classic Fabry disease. Ital J Pediatr 2017;43:1.

59. Rombach SM, van den Bogaard B, de Groot E, et al. Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine. Hypertension 2012;60:998-1005.

60. Biegstraaten M, Hollak CE, Bakkers M, Faber CG, Aerts JM, van Schaik IN. Small fiber neuropathy in Fabry disease. Mol Genet Metab 2012;106:135-41.

61. Rombach SM, Aerts JM, Poorthuis BJ, et al. Long-term effect of antibodies against infused alpha-galactosidase a in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One 2012;7:e47805.

62. Effraimidis G, Feldt-Rasmussen U, Rasmussen ÅK, et al. Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort. J Med Genet 2021;58:692-700.

63. Hughes D, Gonzalez D, Maegawa G, et al. Long-term safety and efficacy of pegunigalsidase alfa: a multicenter 6-year study in adult patients with Fabry disease. Genet Med 2023;25:100968.

64. Mauhin W, Lidove O, Amelin D, et al. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY. Orphanet J Rare Dis 2018;13:127.

65. Arends M, Wijburg FA, Wanner C, et al. Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. Mol Genet Metab 2017;121:157-61.

66. Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. N Engl J Med 2016;375:545-55.

67. Müntze J, Gensler D, Maniuc O, et al. Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1 year. Clin Pharmacol Ther 2019;105:1224-33.

68. Hughes DA, Nicholls K, Shankar SP, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet 2017;54:288-96.

69. Riccio E, Zanfardino M, Ferreri L, et al. Switch from enzyme replacement therapy to oral chaperone migalastat for treating Fabry disease: real-life data. Eur J Hum Genet 2020;28:1662-8.

70. Lenders M, Nordbeck P, Kurschat C, et al. Treatment of Fabry disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother 2022;8:272-81.

71. Nowak A, Huynh-Do U, Krayenbuehl PA, Beuschlein F, Schiffmann R, Barbey F. Fabry disease genotype, phenotype, and migalastat amenability: insights from a national cohort. J Inherit Metab Dis 2020;43:326-33.

72. Lenders M, Stappers F, Niemietz C, et al. Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. J Med Genet 2019;56:548-56.

73. Liu HC, Lin HY, Yang CF, et al. Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A). Orphanet J Rare Dis 2014;9:111.

74. Arends M, Biegstraaten M, Hughes DA, et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors. PLoS One 2017;12:e0182379.

75. Bichet DG, Aerts JM, Auray-Blais C, et al. Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. Genet Med 2021;23:192-201.

76. Nowak A, Beuschlein F, Sivasubramaniam V, Kasper D, Warnock DG. Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. J Med Genet 2022;59:287-93.

77. Jenab Y, Pourjafari M, Darabi F, Boroumand MA, Zoroufian A, Jalali A. Prevalence and determinants of elevated high-sensitivity cardiac troponin T in hypertrophic cardiomyopathy. J Cardiol 2014;63:140-4.

78. Sato Y, Fujiwara H, Takatsu Y. Cardiac troponin and heart failure in the era of high-sensitivity assays. J Cardiol 2012;60:160-7.

79. Feustel A, Hahn A, Schneider C, et al. Continuous cardiac troponin I release in Fabry disease. PLoS One 2014;9:e91757.

80. Tanislav C, Guenduez D, Liebetrau C, et al. Cardiac troponin I: a valuable biomarker indicating the cardiac involvement in Fabry disease. PLoS One 2016;11:e0157640.

81. Seydelmann N, Liu D, Krämer J, et al. High-sensitivity troponin: a clinical blood biomarker for staging cardiomyopathy in Fabry disease. J Am Heart Assoc 2016;5:e002839.

82. Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab 2019;126:169-82.

83. Nordin S, Kozor R, Medina-Menacho K, et al. Proposed stages of myocardial phenotype development in Fabry disease. JACC Cardiovasc Imaging 2019;12:1673-83.

84. Nordin S, Kozor R, Baig S, et al. Cardiac phenotype of prehypertrophic Fabry disease. Circ Cardiovasc Imaging 2018;11:e007168.

85. Nordin S, Kozor R, Bulluck H, et al. Cardiac Fabry disease with late gadolinium enhancement is a chronic inflammatory cardiomyopathy. J Am Coll Cardiol 2016;68:1707-8.

86. Augusto JB, Nordin S, Vijapurapu R, et al. Myocardial edema, myocyte injury, and disease severity in Fabry disease. Circ Cardiovasc Imaging 2020;13:e010171.

87. Nordin S, Kozor R, Vijapurapu R, et al. Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy. Circ Cardiovasc Imaging 2019;12:e009430.

88. Camporeale A, Bandera F, Pieroni M, et al. Effect of migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study. J Med Genet 2023;60:850-8.

89. Berger R, Huelsman M, Strecker K, et al. B-type natriuretic peptide predicts sudden death in patients with chronic heart failure. Circulation 2002;105:2392-7.

90. Maisel AS, Krishnaswamy P, Nowak RM, et al. Rapid measurement of B-type natriuretic peptide in the emergency diagnosis of heart failure. N Engl J Med 2002;347:161-7.

91. Coats CJ, Parisi V, Ramos M, et al. Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with Anderson-Fabry disease. Am J Cardiol 2013;111:111-7.

92. Torralba-Cabeza MÁ, Olivera S, Hughes DA, Pastores GM, Mateo RN, Pérez-Calvo JI. Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease. Mol Genet Metab 2011;104:301-7.

93. Liu D, Oder D, Salinger T, et al. Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease. Open Heart 2018;5:e000803.

94. Bass JL, Shrivastava S, Grabowski GA, Desnick RJ, Moller JH. The M-mode echocardiogram in Fabry’s disease. Am Heart J 1980;100:807-12.

95. Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986;7:1157-61.

96. Meucci MC, Lillo R, Del Franco A, et al. Prognostic implications of the extent of cardiac damage in patients with Fabry disease. J Am Coll Cardiol 2023;82:1524-34.

97. Costanzo L, Buccheri S, Capranzano P, et al. Early cardiovascular remodelling in Fabry disease. J Inherit Metab Dis 2014;37:109-16.

98. Fiuza M, Avó LB, Oliveira EI, Gonçalves S, Lopes MG. Detection of preclinical left ventricular dysfunction in Fabry disease: the contribution of tissue Doppler. Rev Port Cardiol 2006;25:613-37.

99. Palecek T, Linhart A, Lubanda JC, et al. Early diastolic mitral annular velocity and color M-mode flow propagation velocity in the evaluation of left ventricular diastolic function in patients with Fabry disease. Heart Vessels 2006;21:13-9.

100. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003;107:1978-84.

101. Toro R, Perez-Isla L, Doxastaquis G, et al. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol 2009;132:38-44.

102. Zamorano J, Serra V, Pérez de Isla L, et al. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease. Eur J Echocardiogr 2011;12:671-7.

103. Sadick N, Thomas L. Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study. Heart Lung Circ 2007;16:200-6.

104. Graziani F, Laurito M, Pieroni M, et al. Right ventricular hypertrophy, systolic function, and disease severity in Anderson-Fabry disease: an echocardiographic study. J Am Soc Echocardiogr 2017;30:282-91.

105. Hashimoto I, Li X, Hejmadi Bhat A, Jones M, Zetts AD, Sahn DJ. Myocardial strain rate is a superior method for evaluation of left ventricular subendocardial function compared with tissue Doppler imaging. J Am Coll Cardiol 2003;42:1574-83.

106. Morris DA, Blaschke D, Canaan-Kühl S, et al. Global cardiac alterations detected by speckle-tracking echocardiography in Fabry disease: left ventricular, right ventricular, and left atrial dysfunction are common and linked to worse symptomatic status. Int J Cardiovasc Imaging 2015;31:301-13.

107. Gruner C, Verocai F, Carasso S, et al. Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy. Echocardiography 2012;29:810-7.

108. Saccheri MC, Cianciulli TF, Lax JA, et al. Two-dimensional speckle tracking echocardiography for early detection of myocardial damage in young patients with Fabry disease. Echocardiography 2013;30:1069-77.

109. Shanks M, Thompson RB, Paterson ID, et al. Systolic and diastolic function assessment in fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurements. J Am Soc Echocardiogr 2013;26:1407-14.

110. Spinelli L, Giugliano G, Imbriaco M, et al. Left ventricular radial strain impairment precedes hypertrophy in Anderson-Fabry disease. Int J Cardiovasc Imaging 2020;36:1465-76.

111. Zada M, Lo Q, Boyd AC, et al. Basal segmental longitudinal strain: a marker of subclinical myocardial involvement in Anderson-Fabry disease. J Am Soc Echocardiogr 2021;34:405-13.e2.

112. Lu DY, Huang WM, Wang WT, et al. Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy. Eur Heart J Cardiovasc Imaging 2022;23:487-95.

113. Réant P, Testet E, Reynaud A, et al. Characterization of Fabry disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imaging 2020;36:1333-42.

114. Lillo R, Graziani F, Panaioli E, et al. Right ventricular strain in Anderson-Fabry disease. Int J Cardiol 2021;330:84-90.

115. Meucci MC, Lillo R, Lombardo A, et al. Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy. Eur Heart J Cardiovasc Imaging 2023;24:542-51.

116. Boyd AC, Lo Q, Devine K, et al. Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy. J Am Soc Echocardiogr 2013;26:1415-23.

117. Cheng-Baron J, Chow K, Pagano JJ, et al. Quantification of circumferential, longitudinal, and radial global fractional shortening using steady-state free precession cines: a comparison with tissue-tracking strain and application in Fabry disease. Magn Reson Med 2015;73:586-96.

118. Halfmann MC, Altmann S, Schoepf UJ, et al. Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. Eur Radiol 2023;33:2039-51.

119. Pichette M, Serri K, Pagé M, Di LZ, Bichet DG, Poulin F. Impaired left atrial function in Fabry disease: a longitudinal speckle-tracking echocardiography study. J Am Soc Echocardiogr 2017;30:170-9.e2.

120. Esposito R, Russo C, Santoro C, et al. Association between left atrial deformation and Brain involvement in patients with Anderson-Fabry disease at diagnosis. J Clin Med 2020;9:2741.

121. Spinelli L, Giugliano G, Pisani A, et al. Does left ventricular function predict cardiac outcome in Anderson-Fabry disease? Int J Cardiovasc Imaging 2021;37:1225-36.

122. Beer M, Weidemann F, Breunig F, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry’s cardiomyopathy. Am J Cardiol 2006;97:1515-8.

123. Krämer J, Niemann M, Liu D, et al. Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease. Eur Heart J 2013;34:1587-96.

124. Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299-301.

125. Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009;119:524-9.

126. Semelka RC, Tomei E, Wagner S, et al. Normal left ventricular dimensions and function: interstudy reproducibility of measurements with cine MR imaging. Radiology 1990;174:763-8.

127. Messalli G, Imbriaco M, Avitabile G, et al. Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol Med 2012;117:19-28.

128. Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 2009;95:1103-7.

129. Koskenvuo JW, Hartiala JJ, Nuutila P, et al. Twenty-four-month alpha-galactosidase a replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 2008;31:432-41.

130. Hazari H, Belenkie I, Kryski A, et al. Comparison of cardiac magnetic resonance imaging and echocardiography in assessment of left ventricular hypertrophy in Fabry disease. Can J Cardiol 2018;34:1041-7.

131. Moon JC, Sachdev B, Elkington AG, 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;24:2151-5.

132. Hoey ET, Neil-Gallagher E. Utility of gadolinium enhanced cardiovascular MRI to differentiate Fabry’s disease from other causes of hypertrophic cardiomyopathy. Postgrad Med J 2012;88:731-2.

133. Kozor R, Grieve SM, Tchan MC, et al. Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR. Heart 2016;102:298-302.

134. De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry’s disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 2009;192:W97-102.

135. Weidemann F, Breunig F, Beer M, et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 2005;26:1221-7.

136. Vijapurapu R, Nordin S, Baig S, et al. Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease. Heart 2019;105:470-6.

137. Moon JC, Sheppard M, Reed E, Lee P, Elliott PM, Pennell DJ. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson 2006;8:479-82.

138. Niemann M, Herrmann S, Hu K, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 2011;4:592-601.

139. Hsu TR, Hung SC, Chang FP, et al. Later onset Fabry disease, cardiac damage progress in silence: experience with a highly prevalent mutation. J Am Coll Cardiol 2016;68:2554-63.

140. Koeppe S, Neubauer H, Breunig F, et al. MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease. Int J Cardiol 2012;160:53-8.

141. Deva DP, Hanneman K, Li Q, et al. Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease. J Cardiovasc Magn Reson 2016;18:14.

142. Weidemann F, Niemann M, Herrmann S, et al. A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium. Eur Heart J 2007;28:3020-6.

143. Serra VM, Barba MA, Torrá R, et al. Role of cardiac magnetic resonance in cardiac involvement of Fabry disease. Med Clin 2010;135:300-5.

144. Krämer J, Niemann M, Störk S, et al. Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol 2014;114:895-900.

145. Hanneman K, Karur GR, Wasim S, Morel CF, Iwanochko RM. Prognostic significance of cardiac magnetic resonance imaging late gadolinium enhancement in Fabry disease. Circulation 2018;138:2579-81.

146. Hiestand R, Nowak A, Sokolska JM, et al. Clinical and CMR characteristics associated with cardiac events in patients with Fabry disease. Int J Cardiol 2023;382:46-51.

147. Gatterer C, Beitzke D, Graf S, et al. Long-term monitoring of cardiac involvement under migalastat treatment using magnetic resonance tomography in Fabry disease. Life 2023;13:1213.

148. Iles LM, Ellims AH, Llewellyn H, et al. Histological validation of cardiac magnetic resonance analysis of regional and diffuse interstitial myocardial fibrosis. Eur Heart J Cardiovasc Imaging 2015;16:14-22.

149. Ditaranto R, Leone O, Lovato L, et al. Correlations between cardiac magnetic resonance and myocardial histologic findings in Fabry disease. JACC Cardiovasc Imaging 2023;16:1629-32.

150. Pagano JJ, Chow K, Khan A, et al. Reduced right ventricular native myocardial T1 in Anderson-Fabry disease: comparison to pulmonary hypertension and healthy controls. PLoS One 2016;11:e0157565.

151. Pica S, Sado DM, Maestrini V, 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;16:99.

152. Sado DM, White SK, Piechnik SK, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 2013;6:392-8.

153. Thompson RB, Chow K, Khan A, et al. T1 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging 2013;6:637-45.

154. Walter TC, Knobloch G, Canaan-Kuehl S, et al. Segment-by-segment assessment of left ventricular myocardial affection in Anderson-Fabry disease by non-enhanced T1-mapping. Acta Radiol 2017;58:914-21.

155. Karur GR, Robison S, Iwanochko RM, et al. Use of myocardial T1 mapping at 3.0 T to differentiate Anderson-Fabry disease from hypertrophic cardiomyopathy. Radiology 2018;288:398-406.

156. van den Boomen M, Slart RHJA, Hulleman EV, et al. Native T1 reference values for nonischemic cardiomyopathies and populations with increased cardiovascular risk: a systematic review and meta-analysis. J Magn Reson Imaging 2018;47:891-912.

157. Roller FC, Fuest S, Meyer M, et al. Assessment of cardiac involvement in Fabry disease (FD) with native T1 mapping. Rofo 2019;191:932-9.

158. Mathur S, Dreisbach JG, Karur GR, et al. Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease: relationship to T1 mapping, late gadolinium enhancement and hypertrophy. J Cardiovasc Magn Reson 2019;21:45.

159. Camporeale A, Pieroni M, Pieruzzi F, et al. Predictors of clinical evolution in prehypertrophic Fabry disease. Circ Cardiovasc Imaging 2019;12:e008424.

160. Imbriaco M, Nappi C, Ponsiglione A, et al. Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson-Fabry disease: AFFINITY study group. Eur Heart J Cardiovasc Imaging 2019;20:1004-11.

161. Spinelli L, Imbriaco M, Nappi C, et al. Early Cardiac involvement affects left ventricular longitudinal function in females carrying α-galactosidase a mutation: role of hybrid positron emission tomography and magnetic resonance imaging and speckle-tracking echocardiography. Circ Cardiovasc Imaging 2018;11:e007019.

162. Haga T, Okumura T, Isobe S, et al. Potential prognostic implications of myocardial thallium-201 and iodine-123-beta-methylpentadecanoic acid dual scintigraphy in patients with Anderson-Fabry disease. Ann Nucl Med 2019;33:930-6.

163. Imbriaco M, Pellegrino T, Piscopo V, et al. Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease. Eur J Nucl Med Mol Imaging 2017;44:2266-73.

164. Yamamoto S, Suzuki H, Sugimura K, et al. Focal reduction in cardiac 123I-metaiodobenzylguanidine uptake in patients with Anderson-Fabry disease. Circ J 2016;80:2550-1.

165. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of diet in renal disease study group. Ann Intern Med 1999;130:461-70.

166. Levey AS, Stevens LA, Schmid CH, et al. A new equation to estimate glomerular filtration rate. Ann Intern Med 2009;150:604-12.

167. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl 2013;3:1-150. Available from: https://kdigo.org/wp-content/uploads/2017/02/KDIGO_2012_CKD_GL.pdf [Last accessed on 19 Apr 2024].

168. Waldek S, Feriozzi S. Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy? BMC Nephrol 2014;15:72.

169. Filler G, Bökenkamp A, Hofmann W, Le Bricon T, Martínez-Brú C, Grubb A. Cystatin C as a marker of GFR-history, indications, and future research. Clin Biochem 2005;38:1-8.

170. Hoek FJ, Kemperman FA, Krediet RT. A comparison between cystatin C, plasma creatinine and the Cockcroft and Gault formula for the estimation of glomerular filtration rate. Nephrol Dial Transplant 2003;18:2024-31.

171. Feriozzi S, Germain DP, Di Vito R, Legrand A, Ricci R, Barbey F. Cystatin C as a marker of early changes of renal function in Fabry nephropathy. J Nephrol 2007;20:437-43.

172. Stevens LA, Coresh J, Schmid CH, et al. Estimating GFR using serum cystatin C alone and in combination with serum creatinine: a pooled analysis of 3,418 individuals with CKD. Am J Kidney Dis 2008;51:395-406.

173. Rombach SM, Baas MC, ten Berge IJ, Krediet RT, Bemelman FJ, Hollak CE. The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease. Nephrol Dial Transplant 2010;25:2549-56.

174. Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr Res 2008;64:550-5.

175. Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry outcome survey. Acta Paediatr 2006;95:86-92.

176. Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics 2005;115:e344-55.

177. Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003;162:767-72.

178. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C. Fabry Registry. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23:1600-7.

179. Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry registry. Clin J Am Soc Nephrol 2010;5:2220-8.

180. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146:77-86.

181. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006;69:1216-21.

182. Feriozzi S, Torras J, Cybulla M, Nicholls K, Sunder-Plassmann G, West M. FOS Investigators. The effectiveness of long-term agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 2012;7:60-9.

183. Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet 2015;52:353-8.

184. Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012;27:1042-9.

185. West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009;20:1132-9.

186. Moura AP, Hammerschmidt T, Deon M, Giugliani R, Vargas CR. Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease. Clin Chim Acta 2018;478:62-7.

187. Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis 2001;24:66-70; discussion 65.

188. Sessa A, Meroni M, Battini G, et al. Renal involvement in Anderson-Fabry disease. J Nephrol 2003;16:310-3.

189. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol 2002;13:S134-8.

190. Fischer EG, Moore MJ, Lager DJ. Fabry disease: a morphologic study of 11 cases. Mod Pathol 2006;19:1295-301.

191. Fogo AB, Bostad L, Svarstad E, et al. Scoring system for renal pathology in Fabry disease: report of the international study group of Fabry nephropathy (ISGFN). Nephrol Dial Transplant 2010;25:2168-77.

192. Ortiz A, Oliveira J, Cianciaruso B, Waldek S, Wanner C. The Fabry registry demonstrates heterogeneity of renal progression in 883 males and females with Fabry disease. Nephrol Dial Transplant 2006;21:iv4. Available from: https://www.researchgate.net/publication/295740917_The_Fabry_registry_demonstrates_heterogeneity_of_renal_progression_in_833_males_and_females_with_Fabry_disease [Last accessed on 19 Apr 2024].

193. Skrunes R, Tøndel C, Leh S, et al. Long-term dose-dependent agalsidase effects on kidney histology in Fabry disease. Clin J Am Soc Nephrol 2017;12:1470-9.

194. Santostefano M, Cappuccilli M, Gibertoni D, et al. Fabry disease nephropathy: histological changes with nonclassical mutations and genetic variants of unknown significance. Am J Kidney Dis 2023;82:581-96.e0.

195. Azevedo O, Gago MF, Miltenberger-Miltenyi G, et al. Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation. Mol Genet Metab Rep 2020;22:100565.

196. Azevedo E, Mendes A, Seixas D, et al. Functional transcranial Doppler: presymptomatic changes in Fabry disease. Eur Neurol 2012;67:331-7.

197. Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008;79:1249-54.

198. Zhao Y, Zhu Y, Li F, et al. Brain MRI correlations with disease burden and biomarkers in Fabry disease. J Neurol 2023;270:4939-48.

199. Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-9.

200. Fellgiebel A, Müller MJ, Mazanek M, Baron K, Beck M, Stoeter P. White matter lesion severity in male and female patients with Fabry disease. Neurology 2005;65:600-2.

201. Steinicke R, Gaertner B, Grittner U, et al. Kidney function and white matter disease in young stroke patients: analysis of the stroke in young Fabry patients study population. Stroke 2012;43:2382-8.

202. Körver S, Vergouwe M, Hollak CEM, van Schaik IN, Langeveld M. Development and clinical consequences of white matter lesions in Fabry disease: a systematic review. Mol Genet Metab 2018;125:205-16.

203. Fellgiebel A, Gartenschläger M, Wildberger K, Scheurich A, Desnick RJ, Sims K. Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease. Cerebrovasc Dis 2014;38:448-56.

204. Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 2013;8:47.

205. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014;37:341-52.

206. Kolodny E, Fellgiebel A, Hilz MJ, et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015;46:302-13.

207. Underhill HR, Golden-Grant K, Garrett LT, Uhrich S, Zielinski BA, Scott CR. Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging. J Magn Reson Imaging 2015;42:1611-22.

208. Ulivi L, Kanber B, Prados F, et al. White matter integrity correlates with cognition and disease severity in Fabry disease. Brain 2020;143:3331-42.

209. Lyndon D, Davagnanam I, Wilson D, et al. MRI-visible perivascular spaces as an imaging biomarker in Fabry disease. J Neurol 2021;268:872-8.

210. Fellgiebel A, Keller I, Martus P, et al. Basilar artery diameter is a potential screening tool for Fabry disease in young stroke patients. Cerebrovasc Dis 2011;31:294-9.

211. Uçeyler N, Homola GA, Guerrero González H, et al. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease. PLoS One 2014;9:e87054.

212. Politei J, Schenone AB, Burlina A, et al. Vertebrobasilar dolichoectasia in Fabry disease: the earliest marker of neurovascular involvement? J Inborn Errors Metab Scr 2014;2:232640981454124.

213. Takanashi JI, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol 2003;24:916-21.

214. Burlina AP, Manara R, Caillaud C, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 2008;255:738-44.

215. Fellgiebel A, Wolf DO, Kolodny E, Müller MJ. Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease. J Inherit Metab Dis 2012;35:363-7.

216. Lelieveld IM, Böttcher A, Hennermann JB, Beck M, Fellgiebel A. Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry disease. PLoS One 2015;10:e0137603.

217. Segura T, Ayo-Martín O, Gómez-Fernandez I, Andrés C, Barba MA, Vivancos J. Cerebral hemodynamics and endothelial function in patients with Fabry disease. BMC Neurol 2013;13:170.

218. Domon B, Aebersold R. Challenges and opportunities in proteomics data analysis. Mol Cell Proteomics 2006;5:1921-6.

219. Matthews H, Hanison J, Nirmalan N. “Omics”-informed drug and biomarker discovery: opportunities, challenges and future perspectives. Proteomes 2016;4:28.

220. Betzen C, Alhamdani MS, Lueong S, Schröder C, Stang A, Hoheisel JD. Clinical proteomics: promises, challenges and limitations of affinity arrays. Proteomics Clin Appl 2015;9:342-7.

221. Dupont FO, Gagnon R, Boutin M, Auray-Blais C. A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers. Curr Med Chem 2013;20:280-8.

222. Manwaring V, Boutin M, Auray-Blais C. A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients. Anal Chem 2013;85:9039-48.

223. Boutin M, Auray-Blais C. Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers. J Am Soc Mass Spectrom 2015;26:499-510.

224. Auray-Blais C, Boutin M, Gagnon R, Dupont FO, Lavoie P, Clarke JT. Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal Chem 2012;84:2745-53.

225. Lavoie P, Boutin M, Abaoui M, Auray-Blais C. Fabry disease biomarkers: analysis of urinary lyso-Gb3 and seven related analogs using tandem mass spectrometry. Curr Protoc Hum Genet 2016;90:17.22.1-12.

226. Cuccurullo M, Beneduci A, Anand S, et al. Fabry disease: perspectives of urinary proteomics. J Nephrol 2010;23:S199-212.

227. Kistler AD, Siwy J, Breunig F, et al. A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy. PLoS One 2011;6:e20534.

228. Manwaring V, Heywood WE, Clayton R, et al. The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. J Proteome Res 2013;12:2013-21.

229. Matafora V, Cuccurullo M, Beneduci A, et al. Early markers of Fabry disease revealed by proteomics. Mol Biosyst 2015;11:1543-51.

230. Vojtová L, Zima T, Tesař V, et al. Study of urinary proteomes in Anderson-Fabry disease. Ren Fail 2010;32:1202-9.

231. Doykov ID, Heywood WE, Nikolaenko V, et al. Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. J Med Genet 2020;57:38-47.

232. Altarescu G, Chicco G, Whybra C, et al. Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the mainz severity score index for Fabry disease. J Inherit Metab Dis 2008;31:117-23.

233. Kaneski CR, Moore DF, Ries M, Zirzow GC, Schiffmann R. Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease. Neurology 2006;67:2045-7.

234. Vedder AC, Biró E, Aerts JM, Nieuwland R, Sturk G, Hollak CE. Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment. Nephrol Dial Transplant 2009;24:3074-81.

235. Yogasundaram H, Nikhanj A, Putko BN, et al. Elevated inflammatory plasma biomarkers in patients with fabry disease: a critical link to heart failure with preserved ejection fraction. J Am Heart Assoc 2018;7:e009098.

236. Chen KH, Chien Y, Wang KL, et al. Evaluation of proinflammatory prognostic biomarkers for Fabry cardiomyopathy with enzyme replacement therapy. Can J Cardiol 2016;32:1221.e1-9.

237. Chien Y, Chien CS, Chiang HC, et al. Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation. Oncotarget 2016;7:87161-79.

238. Vedder AC, Cox-Brinkman J, Hollak CE, et al. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. Mol Genet Metab 2006;89:239-44.

239. Degraba T, Azhar S, Dignat-george F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000;47:229-33.

240. Fedi S, Gensini F, Gori AM, Abbate R, Borsini W. Homocysteine and tissue factor pathway inhibitor levels in patients with Fabry's disease. J Thromb Haemost 2005;3:2117-9.

241. Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl 2002;91:57-61.

242. Rohard I, Schaefer E, Kampmann C, Beck M, Gal A. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. J Inherit Metab Dis 2008;31:S349-56.

243. Loso J, Lund N, Avanesov M, et al. Serum biomarkers of endothelial dysfunction in Fabry associated cardiomyopathy. Front Cardiovasc Med 2018;5:108.

244. Brakch N, Dormond O, Bekri S, et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. Eur Heart J 2010;31:67-76.

245. Aguiar P, Azevedo O, Pinto R, et al. Biomarkers of myocardial fibrosis: revealing the natural history of fibrogenesis in Fabry disease cardiomyopathy. J Am Heart Assoc 2018;7:e007124.

246. Aguiar P, Azevedo O, Pinto R, et al. Collagen type I synthesis biomarkers predict the progression of Fabry disease cardiomyopathy. Mol Genet Metab 2018;123:S16.

247. Hernández-Romero D, Sánchez-Quiñones J, Vílchez JA, et al. Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease. Sci Rep 2019;9:6235.

248. Riccio E, Sabbatini M, Capuano I, Pisani A. Early biomarkers of Fabry nephropathy: a review of the literature. Nephron 2019;143:274-81.

249. Fall B, Scott CR, Mauer M, et al. Urinary podocyte loss is increased in patients with Fabry disease and correlates with clinical severity of fabry nephropathy. PLoS One 2016;11:e0168346.

250. Pereira EM, Silva AS, Labilloy A, Monte Neto JT, Monte SJ. Podocyturia in Fabry disease. J Bras Nefrol 2016;38:49-53.

251. Selvarajah M, Nicholls K, Hewitson TD, Becker GJ. Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique. Nephrol Dial Transplant 2011;26:3195-202.

252. Trimarchi H, Canzonieri R, Schiel A, et al. Podocyturia is significantly elevated in untreated vs treated Fabry adult patients. J Nephrol 2016;29:791-7.

253. Politei J, Alberton V, Amoreo O, et al. Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible? Pediatr Nephrol 2018;33:2095-101.

254. Liern M, Collazo A, Valencia M, et al. Podocyturia in pediatric patients with Fabry disease. Nefrología 2019;39:177-83.

255. Aguiar P, Azevedo O, Pinto R, et al. New biomarkers defining a novel early stage of Fabry nephropathy: a diagnostic test study. Mol Genet Metab 2017;121:162-9.

256. Aguiar P, Azevedo O, Pinto R, et al. Tubular dysfunction biomarkers in Fabry disease: better than albuminuria to identify patients at risk of nephropathy progression. Mol Genet Metab 2018;123:S16-7.

257. Vylet'al P, Hůlková H, Zivná M, et al. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. J Inherit Metab Dis 2008;31:508-17.

258. Lepedda AJ, Fancellu L, Zinellu E, et al. Urine bikunin as a marker of renal impairment in Fabry's disease. Biomed Res Int 2013;2013:205948.

259. Moore DF, Krokhin OV, Beavis RC, et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci USA 2007;104:2873-8.

260. Heo SH, Kang E, Kim YM, et al. Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. J Med Genet 2017;54:771-80.

261. Hollander Z, Dai DL, Putko BN, et al. Gender-specific plasma proteomic biomarkers in patients with Anderson-Fabry disease. Eur J Heart Fail 2015;17:291-300.

262. Cammarata G, Scalia S, Colomba P, et al. A pilot study of circulating microRNAs as potential biomarkers of Fabry disease. Oncotarget 2018;9:27333-45.

263. Jaurretche S, Perez G, Antongiovanni N, Perretta F, Venera G. Variables associated with a urinary MicroRNAs excretion profile indicative of renal fibrosis in Fabry disease patients. Int J Chronic Dis 2019;2019:4027606.

264. Nowak A, Haddad G, Kistler AD, et al. Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes. J Med Genet 2022;59:279-86.

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