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- W2040976421 abstract "The glycolipid lysosomal storage diseases are a collection of rare, inherited disorders of metabolism associated with heterogeneous pathologies and reduced life expectancy. Reduction of the substrate that accumulates due to catabolic enzyme deficiency can be mediated by an increasing number of therapeutic approaches, including enzyme replacement, pharmacological intervention to reduce substrate synthesis or enhance residual enzyme activity, and cell or gene therapy. The success of one agent, the imino sugar miglustat, has provided the impetus for using similar molecules for enzyme enhancement, or chaperone-mediated therapy for exiting medical conditions and for conditions where no disease-specific therapy is available. The advantages of using small molecules as therapy for the family of lysosomal storage disorders are discussed with reference to existing enzyme replacement therapies." @default.
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- W2040976421 date "2007-02-19" @default.
- W2040976421 modified "2023-10-14" @default.
- W2040976421 title "Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders" @default.
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- W2040976421 doi "https://doi.org/10.1517/14656566.8.4.427" @default.
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