INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV

粘脂贮积症 IV 的病因学调查

• 批准号: 3846319
• 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/3846319
• 关键词: diagnosis design /evaluation; heterozygote; human tissue; inborn lipid storage disorder; inborn metabolism disorder; inborn metabolism disorder diagnosis; molecular pathology

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.

IV 型粘脂沉积症的病因目前尚不清楚。 我们将探索 理性的生化和细胞生物学有助于深入了解 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 遗传咨询测试和现实的治疗方法 这种遗传性疾病。