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. 2020 Feb 7;8(9):e1163. doi: 10.1002/mgg3.1163

Table 1.

The most cited articles on Fabry disease

Country Authors Year Citations Title
USA, France, UK, the Netherlands Eng et al. (2001) 2001 976 Safety and efficacy of recombinant human alpha‐galactosidase a replacement therapy in Fabry's disease
USA Schiffmann et al. (2001) 2001 841 Enzyme replacement therapy in Fabry disease – a randomized controlled trial
USA Brady et al. (1967) 1967 832 Enzymatic defect in Fabry's disease – ceramidetrihexosidase deficiency
USA, Italy, Japan Spada et al. (2006) 2006 490 High incidence of later‐onset Fabry disease revealed by newborn screening
Japan Nakao et al. (1995) 1995 484 An atypical variant of Fabry's disease in men with left ventricular hypertrophy
UK, Italy, Switzerland, Belgium, Spain, Germany, Czech Republic, Austria Mehta et al. (2004) 2004 432 Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
UK MacDermot et al. (2001) 2001 425 Anderson–Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
USA, France Desnick et al. (2003) 2003 389 Fabry disease, an under‐recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
USA, Czech Republic, UK, Canada Banikazemi et al. (2007) 2007 369 Agalsidase‐beta therapy for advanced Fabry disease – a randomized trial
UK, Japan Sachdev et al. (2002) 2002 338 Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy