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: --
• 依托单位: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 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

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.

粘脂沉积症IV的病因目前尚不清楚。 我们将探索 合理的生物化学和细胞生物学导致获得深入了解 发病机制和分子异常的遗传性疾病。 我们 主要目标是发展准确的诊断和携带者检测 测试遗传咨询和现实的方法来治疗 这种遗传性疾病