Abstract
Our understanding of the lipid storage disorders has progressed dramatically since 1881 when Warren Tay, a British opthalmologist, described a cherry-red macular degeneration in the fundus of an infant with marked weakness of the trunk and limbs (1). This patient was the first reported case of Tay-Sachs disease. In the 90 years that have followed, there has been a delineation of a large number of inherited met abolic disorders characterized by the accumulation within tissues of large amounts of lipids.
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Sloan, H.R., Breslow, J.L., Fredrickson, D.S. (1972). Purification and Properties of Two Sphingolipid Hydrolases. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_12
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DOI: https://doi.org/10.1007/978-1-4757-6570-0_12
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