Gaucher's disease
Medical condition
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Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease
The importance of correct phenotyping in Gaucher disease
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease