超高效液相色谱-串联质谱(UPLC-MS/MS)分析酰甘氨酸

Current Protocols in Human Genetics Pub Date : 2018-02-13 DOI:10.1002/cphg.19

Judith A. Hobert, Aiping Liu, Marzia Pasquali

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引用次数: 6

摘要

尿酰甘氨酸的定量分析已被证明是一种高度敏感和特异性的方法，在诊断几种遗传性代谢疾病方面具有临床应用价值，包括:中链酰基辅酶a脱氢酶缺乏症、多重酰基辅酶a脱氢酶缺乏症、短链酰基辅酶a脱氢酶缺乏症、3-甲基丁基辅酶a羧化酶缺乏症、2-甲基丁基辅酶a脱氢酶缺乏症、异戊酸血症、丙酸血症和异丁基辅酶a脱氢酶缺乏症。本文描述了一种目前使用超高效液相色谱/串联质谱(UPLC-MS/MS)的方法。©2016 by John Wiley &儿子,Inc。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)

Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl‐CoA dehydrogenase deficiency, multiple acyl‐CoA dehydrogenase deficiency, short chain acyl‐CoA dehydrogenase deficiency, 3‐methylcrotonyl‐CoA carboxylase deficiency, 2‐methylbutyryl‐CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl‐CoA dehydrogenase deficiency. Here, a method that is currently performed using ultra‐performance liquid chromatography/tandem mass spectrometry (UPLC‐MS/MS) is described. © 2016 by John Wiley & Sons, Inc.

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Current Protocols in Human Genetics Biochemistry, Genetics and Molecular Biology-Genetics

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期刊介绍： Current Protocols in Human Genetics is the resource for designing and running successful research projects in all branches of human genetics.