PATHOGENESIS OF THE WILLIAMS SYNDROME

威廉姆斯综合症的发病机制

• 批准号: 3743956
• 负责人: NORMAN H. BELL
• 金额: --
• 依托单位: MEDICAL UNIVERSITY OF SOUTH CAROLINA
• 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/3743956
• 关键词: aortic valve stenosis; calcium metabolism; human subject; hypercalcemia; mental retardation

Since most patients with the Williams Syndrome (elfin faces, mental retardation, supravalvular aortic stenosis and other congenital defects) are normocalcemic and features of the syndrome were produced in neonatal rats and rabbits with vitamin D induced maternal hypercalcemia, studies are being performed to see if the disorder results from increased uptake or diminished release of calcium by cells.

由于大多数患有威廉姆斯综合征的患者（精灵脸，精神 发育迟缓、主动脉瓣上狭窄和其他先天性缺陷） 是正常的钙和特点的综合征产生于新生儿 维生素D诱导的母体高钙血症大鼠和家兔的研究 正在进行检查，以确定这种疾病是否是由于摄入量增加而导致的。 或减少细胞释放钙。