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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria
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Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria

机译：从比色法到串联质谱法在苯丙酮尿症诊断研究中的技术历程

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Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance. These advancements have made NBS programs better and have improved the health outcomes of the affected newborn through improvements in accurate early detection over the past 50 years. The most current state-of-the-art technology, tandem mass spectrometry (MS/MS), has proven that it is now the choice in almost all modern NBS facilities because it is a versatile instrument that continues to grow in its application not just for amino acid and acylcarnitine detection but for other metabolites and disorders such as lysosomal storage diseases and second-tier detection of some screen-positive results. The use of MS/MS will continue to expand, even with the anticipated introduction and expansion of molecular screening methods into NBS programs. Regarding technological advancements, the future of NBS will include even newer technologies and approaches that will enhance the detection and treatment of newborns affected by PKU and other inborn errors of metabolism.
机译：选择用于新生儿筛查（NBS）中苯丙酮尿症（PKU）检测的苯丙氨酸分析作为模型系统，以描述实验室技术的进步如何改善实验室性能。这些进步使NBS计划变得更好，并且通过在过去50年中改进了准确的早期发现，改善了受影响新生儿的健康状况。最新的最先进技术，即串联质谱（MS / MS）已证明，它已成为几乎所有现代NBS设施中的选择，因为它是一种多功能仪器，其应用不仅在不断发展，而且还在不断发展。用于氨基酸和酰基肉碱的检测，但可用于其他代谢物和疾病，如溶酶体贮积病和某些筛查阳性结果的第二层检测。即使预期将分子筛查方法引入和扩展到NBS程序中，MS / MS的使用也将继续扩大。关于技术进步，国家统计局的未来将包括甚至更新的技术和方法，这些方法和方法将增强对受PKU和其他先天性代谢错误影响的新生儿的检测和治疗。

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