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补充C4衍生的糖是一种PMM2-CDG的生物标志物

Kishore Garapati1,2,3, Rohit Budhraja1, Mayank Saraswat1

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

JCI insight
|April 8, 2024
PubMed
概括

一种新型的糖生物标志物,补充C4衍生Man5GlcNAc2,显示出比碳水化合物缺乏转移素 (CDT) 测试更大的灵敏度,用于诊断PMM2-先天性糖化失调 (CDG). 这一发现为PMM2-CDG和其他CDG提供了更好的诊断准确性.

关键词:
遗传性疾病是一种遗传性疾病.遗传学 遗传学 是一个葡萄糖生物学 葡萄糖生物学代谢过程中的代谢.蛋白质组学是指蛋白质组学.

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