1. Christomanou, H., Chabas, A., Pampols, T. and Guardiola, A. (1989) Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. Klin. Wochenschr., 67, 999–1003.
2. Sandhoff, K., Harzer, K. and Furst, W. (1995) Sphingolipid activator proteins. In Scriber, S., Beaudet, A., Sly, W. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease, 7th edn. McGraw Hill, New York, pp. 2427–2441.
3. Tsuji, S., Martin, B.M., Barranger, J.A., Stubblefield, B.K., LaMarca, M.E. and Ginns, E.I. (1988) Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc. Natl Acad. Sci. USA, 85, 2349–2352.
4. Tsuji, S., Choudary, P.V., Martin, B.M., Stubblefield, B.K., Mayor, J.A., Barranger, J.A. and Ginns, E.I. (1987) A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N. Engl. J. Med., 316, 570–575.
5. Dahl, N., Lagerstrom, M., Erikson, A. and Pettersson, U. (1990) Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am. J. Hum. Genet., 47, 275–278.