ISRCTN11831849已完成不适用
Observational study on the dietary habits and clinical outcome of Dutch VLCADD patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 16
研究概览
简要总结
2018 results in: https://www.ncbi.nlm.nih.gov/pubmed/29556839
研究设计
- 研究类型
- Observational
入排标准
- 性别
- All
入选标准
- •1. Confirmed diagnosis based on deficient VLCADD enzymatic activity in lymphocytes and/or cultured fibroblasts
- •2. Presence of biallelic mutations in the ACADVL gene (OMIM 609575). The diagnosis should not be based on newborn screening.
- •3. Aged between 10 to 99 years old
排除标准
- •Diagnosis based on results of Newborn Screening
研究者
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