1. P.G. Pentchev, M.T. Vanier, K. Suzuki, M.C. Patterson, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, 7th edn., McGraw-Hill, New York, 1995, pp. 2625–2639.
2. M.W. Spence, J.W. Callahan, in: C.R. Scriber, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, pp. 1655–1676.
3. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
4. Linkage of Niemann-Pick disease type C to human chromosome 18.