GBA1 and Gaucher disease: The intravenous use of commercial forms of recombinant human glucocerebrosidase is regarded as the gold standard for the treatment of Gaucher disease, and provides significant improvement in the hematological, skeletal, visceral and quality of life outcomes of patients [24]; substrate inhibition approaches are also included in the therapeutic modalities available for Gaucher disease and have lately shown promising results [25].