课题基金 / 基金详情

INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV

INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
粘脂贮积症 IV 的病因学调查
批准号：
3782427
负责人：
R O BRADY
金额：
$0.0万
依托单位：
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
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/3782427
关键词：
biomarker diagnosis design /evaluation disease carrier state gene expression genetic counseling genetic disorder diagnosis heterozygote human tissue inborn lipid storage disorder molecular pathology pathologic process

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中文摘要
翻译
目前，IV型粘脂病的病因尚不清楚。我们将探索 理性的生化和细胞生物学引导我们深入了解 这种遗传性疾病的发病机制和分子异常。我们的 主要目标是开发准确的诊断和携带者检测 遗传咨询的测试和治疗的现实方法 这种遗传性疾病。
英文摘要
The etiology of Mucolipidosis IV is currently unknown. We shall explore rational biochemical and cell biology leads to obtain insight into the pathogenesis and molecular abnormality in this hereditary disorder. Our principal goals are to develop accurate diagnostic and carrier detection tests for genetic counseling and realistic approaches to the therapy of this hereditary disorder.
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