1. Fabry H. Angiokeratoma corporis diffusum–Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy. Acta Paediatr Oslo Nor 1992 Suppl. 2002;91:3–5.
2. Desnick RJ, Ioannou YA, Eng CM, Desnick RJ, Ioannou YA, Eng CM. In the metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly WX, Valle D, editors. α-Galactosidase A deficiency; Fabry disease. New York: McGraw Hill; 1995. p. 2741–84.
3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–54.
4. Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, et al. When and how to diagnose Fabry disease in clinical practice. Am J Med Sci. 2020;360:641–9.
5. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet Lond Engl. 2008;372:1427–35.