CLINICAL AND MOLECULAR STUDIES OF GAUCHER DISEASE

研究的目的是描述和关联 临床、生化和分子异质性 戈谢病的变体（酸性β-葡萄糖苷酶缺乏症）， 流行性溶酶体贮积病 大细胞的可用性 库从戈谢病患者和大量的新病人 提供了一个机会，评价分子相关性， 发展产前和产后预测测试，作为 治疗干预。

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.