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干血斑生物标志物的新视角 对于溶酶体储存疾病的生物标志物

Justyna Spiewak1, Ivan Doykov1, Apostolos Papandreou1,2,3

  • 1Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1 1EH, UK.

International journal of molecular sciences
|June 28, 2023
PubMed
概括

干血斑生物标志物对溶酶体储存疾病 (LSDs) 显示出希望. 葡萄糖基胺异型分析提高了尼曼-皮克病C型的检测特异性,提高了这种疾病和其他LSD的诊断准确性.

关键词:
费布里病是什么意思 费布里病是什么意思戈舍氏病是戈舍氏病的一种疾病.德国皮克C型疾病生物标志物生物标志物干燥的血液斑点 干燥的血液斑点这是一种甘氨基脂 (glycosphingolipid) 化合物.粘多糖糖化物 (mucopolysaccharidoses) 是一种多糖化物.

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