NL-OMON26974招募中不适用
Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2 deficiency to determine if newborn screening is useful and feasible
MC Utrecht0 个研究点目标入组 380 人开始时间: 待定最近更新:
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 380
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
入选标准
- •OCTN2 deficiency, confirmed by reduced carnitine transporter activity in cultured fibroblasts and/or mutations in the SLC22A5 gene.
- •- Subject referred to academic centre for OCTN2 deficiency because of low carnitine level in NBS.
- •- Mother analysed in academic centre for OCTN2 deficiency due to low carnitine level in infant’s NBS
排除标准
- •No eligible subjects will be excluded from this study
研究者
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