1. Beck M (2006) Demographics of FOS – the Fabry Outcome Survey. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Pharmagenesis, Oxford, pp 155–161
2. Kint JA (1970) Fabry’s disease: α-galactosidase deficiency. Science 167:1268–1269
3. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W (1973) Fabry’s disease: enzymatic diagnosis of hemizygotes and heterozygotes. α-galactosidase activities in plasma, serum, urine and leukocytes. J Lab Clin Med 81:157–171
4. Winchester B, Young E (2006) Biochemical and genetic diagnosis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Pharmagenesis, Oxford, pp 169–181
5. Desnick RJ, Ioannou YA, Eng ME (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly D, Valle D (eds) The metabolic and molecular bases of inherited disease, vol 3, 8th edn. McGraw-Hill, New York, pp 3733–3774