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首页> 外文期刊>Clinical Biochemistry >Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.

机译：串联质谱法新生儿筛查肝肾酪氨酸血症：从干血斑中提取的琥珀酰丙酮的分析。

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OBJECTIVES: To develop a method for the determination of succinylacetone (SA) in dried blood spots (DBS) using tandem mass spectrometry (MS/MS). METHODS: SA was extracted from DBS with an acetonitrile and water solution (80:20 by volume) containing formic acid and hydrazine hydrate (both at 0.1% by volume), and analyzed by MS/MS with a total run time per sample under 2 min. The reference range for SA in newborns was determined by analyzing a control group of 3199 DBS. SA was also measured in stored newborn specimens from three patients diagnosed clinically with hepatorenal tyrosinemia (HT). RESULTS: The within-run precision was
机译：目的：建立一种使用串联质谱法（MS / MS）测定干血斑（DBS）中琥珀酰丙酮（SA）的方法。方法：用含有甲酸和水合肼（均为0.1％的体积）的乙腈和水溶液（体积比为80:20）从DBS中提取SA，然后通过MS / MS分析每个样品的总运行时间在2以下分钟通过分析3199 DBS对照组来确定新生儿SA的参考范围。还从三名临床诊断为肝肾酪氨酸血症（HT）的患者的新生儿样本中测量了SA。结果：在2、10和50μmol/ L的SA强化的血斑上，运行内精密度为

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