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Brit J Derm 10: 113-117, 1898.","DOI":"10.1111\/j.1365-2133.1898.tb16317.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) Brady RO, et al: Enzymatic defect in Fabry's disease: ceramidetrihexosidase deficiency. New Eng J Med 276: 1163-1167, 1967.","DOI":"10.1056\/NEJM196705252762101"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Kint JA: Fabry's disease: alpha-galactosidase deficiency. Science 167: 1268-1269, 1970.","DOI":"10.1126\/science.167.3922.1268"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5) MacDermot KD, et al: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38: 750-760, 2001.","DOI":"10.1136\/jmg.38.11.750"},{"key":"6"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7) Spada M, et al: High incidence of later-onset Fabry disease revealed by newborn screening. 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