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CLINICAL AND MOLECULAR STUDIES OF GAUCHER DISEASE

CLINICAL AND MOLECULAR STUDIES OF GAUCHER DISEASE
戈谢病的临床和分子研究
批准号：
3744983
负责人：
GREGORY A GRABOWSKI
金额：
$0.0万
依托单位：
CINCINNATI CHILDRENS HOSP MED CTR
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/3744983
关键词：
Gaucher's disease beta glucosidases cell bank /registry diagnosis design /evaluation diagnostic tests genetic markers heterozygote human subject inborn lysosomal enzyme disorder inborn metabolism disorder diagnosis longitudinal human study prognosis

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中文摘要
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英文摘要
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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会议论文
CEREDASE TREATMENT OF GAUCHER DISEASE
EVALUATION OF RECOMBINANT HUMAN MACROPHAGE TARGETED BETA-GLUCOCEREBROSIDASE
CEREDASE TREATMENT OF GAUCHER DISEASE
ENZYME AUGMENTATION THERAPY OF GAUCHER DISEASE
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