Ontology highlight
ABSTRACT:
SUBMITTER: Phenix CP
PROVIDER: S-EPMC2890769 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20100601 24
Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal dysfunction. Gaucher disease was the first for which this therapy was applied and remains the prototypical example. Although ERT using recombinant lysosomal enzymes has been shown to be effective in altering the clinical course of Gaucher disease, Fabry disease, Hurler syndrome, Hunter syndrome, Maroteaux-Lamy syndrome, and Pompe disease, the reca ...[more]