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Updated: Oct 17, 2026

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作为长链3-氧-CoA脱酶缺乏症的可靠指标,新型甲酸盐比率

Galina V Baydakova1, Polina G Tsygankova1, Natalia L Pechatnikova2

  • 1Research Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.

International journal of neonatal screening
|September 27, 2023
PubMed
概括

一个新的"HADHA比率"改善了长链3-基-CoA脱酶 (LCHAD) 和线粒体三功能蛋白 (MTP) 缺陷的诊断. 这种生物标志物增强了MS/MS分析的灵敏度和特异性,减少了脂肪酸氧化障碍中的虚假阴性.

关键词:
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In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...