The objectives of the research are to delineate and correlate the clinical, biochemical and molecular heterogeneity within and among the variants of Gaucher disease (acid beta-glucosidase deficiency), the most prevalent lysosomal storage disease. the availability of a large cell bank from Gaucher disease patients and a large number of new patients provides an opportunity for the evaluation of molecular correlations for the development of pre- and postnatal prognostic tests as a basis for therapeutic interventions.
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