ASSESSING NEURAL MECHANISMS OF INJURY IN INBORN ERRORS OF UREA METABOLISM USI

评估尿素代谢先天性缺陷损伤的神经机制 USI

• 批准号: 7951991
• 负责人: Andrea Lynne Gropman
• 金额: $ 0.52万
• 依托单位: GEORGETOWN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7951991
• 关键词: Blood Tests; Clinical Research; Cognitive; Computer Retrieval of Information on Scientific Projects Database; Disease; Female; Functional disorder; Funding; Grant; Inborn Genetic Diseases; Injury; Institution; Laboratories; Link; Magnetic Resonance Imaging; Metabolic; Metabolism; Molecular; Motor; Ornithine carbamoyltransferase deficiency; Participant; Patients; Research; Research Personnel; Resources; Sensory; Source; Techniques; Testing; United States National Institutes of Health; Urea; Urine; improved; male; neuromechanism; urea cycle

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This project will study cognitive and motor dysfunction in patients who are female carriers of ornithine transcarbamylase deficiency (OTCD) or are males with late onset presentation of OTCD. This project seeks to improve our understanding of the underlying neural mechanisms that contribute to metabolic, cognitive, sensory and motor abnormalities in urea cycle disorders. Experimental approaches will combine sensory, cognitive and motor testing with structural, functional and molecular magnetic resonance imaging to study symptomatic and asymptomatic heterozygous female carriers of X-linked Ornithine transcarbamylase deficiency (OTCD), and late onset hemizygous males. Participants will be asked to submit to several tests that include: MRI (magnetic resonance imaging) a non-invasive technique, sensory, cognitive and motor testing and Laboratory testing (blood/urine)

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 该项目将研究鸟氨酸转氨甲酰酶缺乏症 (OTCD) 女性携带者或迟发性 OTCD 男性患者的认知和运动功能障碍。该项目旨在提高我们对尿素循环障碍中导致代谢、认知、感觉和运动异常的潜在神经机制的理解。实验方法将感觉、认知和运动测试与结构、功能和分子磁共振成像相结合，以研究 X 连锁鸟氨酸转氨甲酰酶缺乏症 (OTCD) 的有症状和无症状杂合女性携带者以及晚发型半合子男性。 参与者将被要求接受多项测试，包括：MRI（磁共振成像）、非侵入性技术、感觉、认知和运动测试以及实验室测试（血液/尿液）