PURINE/PYRIMIDINE THERAPY IN A DISORDER OF NUCLEOTIDE METABOLISM

嘌呤/嘧啶治疗核苷酸代谢紊乱

• 批准号: 3743320
• 负责人: ALICE L YU
• 金额: --
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 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/3743320
• 关键词: ataxia; eye coordination disorder; generalized seizures; human subject; immunodeficiency; metabolism disorder; metabolism disorder chemotherapy; nucleotide metabolism; purines; pyrimidines; speech disorders

To determine whether increased pyramidine and possibly purine nucleotide catabolism is responsible for symptoms of speech and developmental delay, intermittent ataxia, strabismus, recurrent seizures and immune dysfunction.

为了确定是否增加的嘧啶和可能的嘌呤核苷酸 卡他莫拉氏病导致言语和发育迟缓的症状， 间歇性共济失调，斜视，反复发作和免疫 功能障碍