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Desnick R, Ioannou Y, Eng C. \u03b1-Galactosidase A deficiency: Fabry disease, 8th edn. New York: McGraw-Hill, 2001."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: Evidence for a better outcome with early treatment. <i>Circulation<\/i> 2009; 119: 524\u2013529.","DOI":"10.1161\/CIRCULATIONAHA.108.794529"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Terryn W, Deschoenmakere G, De Keyser J, Meersseman W, Van Biesen W, Wuyts B, et al. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. <i>Int J Cardiol<\/i> 2013; 167: 2555\u20132560.","DOI":"10.1016\/j.ijcard.2012.06.069"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry\u2019s disease in men with left ventricular hypertrophy. <i>N Engl J Med<\/i> 1995; 333: 288\u2013293.","DOI":"10.1056\/NEJM199508033330504"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. <i>Circulation<\/i> 2002; 105: 1407\u20131411.","DOI":"10.1161\/01.CIR.0000012626.81324.38"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. <i>Circulation<\/i> 2004; 110: 1047\u20131053.","DOI":"10.1161\/01.CIR.0000139847.74101.03"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Havndrup O, Christiansen M, Stoevring B, Jensen M, Hoffman-Bang J, Andersen PS, et al. Fabry disease mimicking hypertrophic cardiomyopathy: Genetic screening needed for establishing the diagnosis in women. <i>Eur J Heart Fail<\/i> 2010; 12: 535\u2013540.","DOI":"10.1093\/eurjhf\/hfq073"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. <i>J Med Genet<\/i> 2001; 38: 769\u2013775.","DOI":"10.1136\/jmg.38.11.769"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. <i>J Med Genet<\/i> 2001; 38: 750\u2013760.","DOI":"10.1136\/jmg.38.11.750"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, et al. The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels. <i>J Inherit Metab Dis<\/i> 2007; 30: 68\u201378.","DOI":"10.1007\/s10545-006-0484-8"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. <i>J Inherit Metab Dis<\/i> 2007; 30: 184\u2013192.","DOI":"10.1007\/s10545-007-0521-2"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. <i>Clin Chim Acta<\/i> 2005; 353: 201\u2013203.","DOI":"10.1016\/j.cccn.2004.10.019"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. <i>BBA-Mol Basis Dis<\/i> 2011; 1812: 70\u201376.","DOI":"10.1016\/j.bbadis.2010.09.007"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. <i>Proc Natl Acad Sci USA<\/i> 2008; 105: 2812\u20132817.","DOI":"10.1073\/pnas.0712309105"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Niemann M, Rolfs A, Stork S, Bijnens B, Breunig F, Beer M, et al. Gene mutations versus clinically relevant phenotypes: Lyso-Gb3 defines Fabry disease. <i>Circ Cardiovasc Genet<\/i> 2014; 7: 8\u201316.","DOI":"10.1161\/CIRCGENETICS.113.000249"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, et al. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. <i>Genet Med<\/i> 2019; 21: 44\u201352.","DOI":"10.1038\/gim.2018.31"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Matoh F, Satoh H, Shiraki K, Saitoh T, Urushida T, Katoh H, et al. Usefulness of delayed enhancement magnetic resonance imaging to differentiate dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy. <i>J Card Fail<\/i> 2007; 13: 372\u2013379.","DOI":"10.1016\/j.cardfail.2007.02.001"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. <i>J Med Genet<\/i> 2015; 52: 262\u2013268.","DOI":"10.1136\/jmedgenet-2014-102872"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, et al. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. <i>PLoS Genet<\/i> 2013; 9: e1003632.","DOI":"10.1371\/journal.pgen.1003632"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Maruyama H, Takata T, Tsubata Y, Tazawa R, Goto K, Tohyama J, et al. Screening of male dialysis patients for Fabry disease by plasma globotriaosylsphingosine. <i>Clin J Am Soc Nephrol<\/i> 2013; 8: 629\u2013636.","DOI":"10.2215\/CJN.08780812"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Tsukimura T, Nakano S, Togawa T, Tanaka T, Saito S, Ohno K, et al. Plasma mutant alpha-galactosidase A protein and globotriaosylsphingosine level in Fabry disease. <i>Mol Genet Metab Rep<\/i> 2014; 1: 288\u2013298.","DOI":"10.1016\/j.ymgmr.2014.07.005"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Nowak A, Mechtler TP, Desnick RJ, Kasper DC. 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