Long Term Follow up for Krabbe Disease

克拉伯病的长期随访

• 批准号: 9338322
• 负责人: Thomas J Langan
• 金额: $ 0.69万
• 依托单位: UNIVERSITY OF MINNESOTA
• 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/9338322
• 关键词: Child; Development; Disease; Exhibits; Globoid cell leukodystrophy; Interview; Neonatal Screening; Outcome; Phenotype; Phonation; Protocols documentation; Telephone; base; follow-up; functional outcomes; standardize measure

We hypothesize that, as part of the known phenotypic variability of Krabbe disease, children with positive screens for this condition will exhibit distinct developmental outcomes, which can be measured by standardized phone interview protocols. Further, we hypothesize that, as part of the known phenotypic variability of Krabbe disease, children with positive screens for this condition will exhibit distinct functional outcomes, which can be measured by standardized phone interview protocols.

我们假设，作为克拉伯病已知表型变异的一部分，儿童 对这种情况进行积极筛查将表现出不同的发育结果，这可以通过以下方式来衡量 标准化电话采访协议。此外，我们假设，作为已知表型的一部分 克拉伯病的变异性，对该病筛查呈阳性的儿童将表现出不同的功能 结果，可以通过标准化的电话采访协议来衡量。