NCT00004348已完成不适用
Study of Protein Translocation in Patients With Beta-Oxidation Disorders
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)0 个研究点目标入组 20 人开始时间: 1995年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
研究概览
简要总结
OBJECTIVES:
I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
详细描述
PROTOCOL OUTLINE:
Patients undergo clinical and molecular analysis of beta-oxidation enzyme metabolism. The evaluation includes a urinary metabolite profile, and DNA and familial studies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Day 至 —(Child, Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
研究者
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