ISRCTN32319326已完成不适用
The role of biotinidase activity and deoxy-sphingolipids in glycogen storage disease type 1 and other disorders of carbohydrate and lipid metabolism
niversity Hospital Zurich0 个研究点目标入组 40 人开始时间: 2017年2月28日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 40
研究概览
简要总结
2018 results in https://www.ncbi.nlm.nih.gov/pubmed/30037504
研究设计
- 研究类型
- Observational
入排标准
- 性别
- All
入选标准
- •1. Over 16 years of age)
- •2. Signed informed consent
- •3. Diagnosis of Glycogen storage disease type 1, hypertriglyceridemia, diabetes mellitus or non-alcoholic fatty liver disease (NAFLD)
- •Healthy controls:
- •1. Male or female aged 18 years and over
- •2. Healthy, no chronic disease, no intercurrent disease at time of examination/blood draw, normal weight (BMI 19-25 kg/m2), no excessive alcohol consumption
- •3. Signed informed consent
排除标准
- •1. Contraindications on ethical grounds
- •2. Hepatocellular carcinoma (GSD1)
- •3. Women who are pregnant or breast feeding
- •Health Controls:
- •Any relevant chronic or intercurrent disease at the time of examination.
研究者
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