NL-OMON46279已完成不适用
Residual galactose oxidation capacity and galactosylation abnormalities as possible predictors for galactose tolerance and outcome in patients with galactose-1-phosphate uridyltransferase deficiency - Galactose oxidation and galactosylation in Classical Galactosemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational invasive
入排标准
- 年龄范围
- 2 至 64（—）
入选标准
- •GALT enzyme activity <15% of healthy controls and/or
- •two null or severe missence variations in the GALT gene
排除标准
- •individuals with swallowing difficulties will be excluded from part B1 (galactose breath test) of the study
研究者
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