Development and application to clinical practice of a validated HPLC method for the analysis of β-glucocerebrosidase in Gaucher disease

- Development and validation of a simple, fast and reliable method for estimation of glucocerebrosidase activity based on high-performance liquid chromatography.
- The residual glucocerebrosidase activity in peripheral monocytes could be a reflection of glucocerebrosidase quantity in targets organs.
- Significant differences between healthy controls and patients were observed, so this suggests that discerning between them and providing an approach to enzyme dosage optimization is feasible.
- Monitoring of glucocerebrosidase in may be a new marker to drive dose selection and early clinical decision making of enzyme replacement therapy.