The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs.
Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.
Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.
Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.