GYRATE ATROPHY OF THE CHOROID AND RETINA

脉络膜和视网膜旋转萎缩

• 批准号: 3848404
• 负责人: DAVID L VALLE
• 金额: --
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 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/3848404
• 关键词: alleles; arginine; child (0-11); choroid uvea; dietary aminoacid; dietary control; family genetics; human subject; molecular genetics; nutrition related tag; ornithine; ornithinemia; pathologic process; retina degeneration

We continue our studies of the natural history and metabolic ramifications of GA as well as the effects of chronic reduction of ornithine with an arginine-restricted diet. We continue to acquire new patients at about 3/year with emphasis on younger probands. Our molecular characterization keeps pace with >50 mutant OAT alleles now identified.

我们继续研究自然历史和新陈代谢 GA的分支以及慢性减少的影响 限制精氨酸饮食的鸟氨酸。我们继续获得新的 每年约3名患者，重点是年轻的先证者。我们的 分子特征与&gt；50突变燕麦等位基因同步 确认身份。