Title: Treatment of Lysosomal Storage Disorders: Presence and Future
Abstract: Aims: Enzyme replacement therapy is available for MPS I, II and VI, Pompe disease and Fabry disease. In addition to this therapeutic principle that is aimed to remove the accumulated storage material within the lysosome, there have been developed novel therapeutic approaches using small molecules (imino sugars) that are able to partially inhibit the substrate synthesis and influx into the catabolically compromised lysosome. This substrate reduction therapy is presently applied in patients affected by type I Gaucher disease and Niemann-Pick disease type C.
Publication Year: 2012
Publication Date: 2012-04-01
Language: en
Type: article
Indexed In: ['crossref']
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