Small–molecule therapeutics for the treatment of glycolipid lysosomal storage disorders
Open Access
- 29 May 2003
- journal article
- review article
- Published by The Royal Society in Philosophical Transactions Of The Royal Society B-Biological Sciences
- Vol. 358 (1433) , 927-945
- https://doi.org/10.1098/rstb.2003.1278
Abstract
Glycosphingolipid (GSL) lysosomal storage disorders are a small but challenging group of human diseases to treat. Although these disorders appear to be monogenic in origin, where the catalytic activity of enzymes in GSL catabolism is impaired, the clinical presentation and severity of disease are heterogeneous. Present attitudes to treatment demand individual therapeutics designed to match the specific disease–related gene defect; this is an acceptable approach for those diseases with high frequency, but it lacks viability for extremely rare conditions.Keywords
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