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Quantitative analysis of hexose-monophosphates from biological samples

机译:定量分析生物样品中的己糖一磷酸

摘要

The invention is for a method of quantitatively analysing the hexose monophosphate (HMP) composition of a biological sample, preferably a dried blood sample, using tandem mass spectrometry and for a method for quantitatively analysing the abundance of amino acids acylcarnitines and HMP from the same biological sample (such as a dried blood spot sample). The method is useful in screening infants for galactosemia and can be integrated with a method of screening for disorders in the metabolism of amino acids, organic acids and fatty acids.
机译:本发明涉及用于使用串联质谱法定量分析生物样品,优选干血样品的己糖单磷酸(HMP)组成的方法,以及用于定量分析来自同一生物样品的氨基酸酰基肉碱和HMP含量的方法。样本(例如干血斑样本)。该方法可用于筛查婴儿的半乳糖血症,并可与筛查氨基酸,有机酸和脂肪酸代谢异常的方法结合在一起。

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