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Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Lister L. Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.","DOI":"10.1056\/NEJM196705252762101"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Rodr\u00edguez-Mar\u00ed A, Coll MJ, Chab\u00e1s A. Molecular Analysis in Fabry Disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 2003; 22: 258.","DOI":"10.1002\/humu.9172"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Huang J, Zhao S, Chen Z, Zhang S, Lu M. Contribution of electrocardiogram in the differentiation of cardiac amyloidosis and nonobstructive hypertrophic cardiomyopathy. Int Heart J 2015; 56: 522-6.","DOI":"10.1536\/ihj.15-005"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Schiffmann R. Fabry disease. Pharmacol Ther 2009; 122: 65-77. (Review)","DOI":"10.1016\/j.pharmthera.2009.01.003"},{"key":"5","unstructured":"5. The Human Gene Mutation Database. Available at: http:\/\/www.hgmd.cf.ac.uk\/ Accessed July 14, 2016."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Nakagawa N, Maruyama H, Ishihara T, <i>et al<\/i>. Clinical and genetic investigation of a Japanese family with cardiac Fabry disease. Identification of a novel <i>\u03b1<\/i>-galactosidase A missense mutation (G195V). Int Heart J 2011; 52: 308-11.","DOI":"10.1536\/ihj.52.308"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-60.","DOI":"10.1136\/jmg.38.11.750"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. 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Structural characterization of mutant alpha-galactosidases causing Fabry disease. 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