Application of tandem mass spectrometry to biochemical genetics and newborn screening

被引：80

作者：

Carpenter, KH ^{[1
]}

Wiley, V ^{[1
]}

机构：

[1] Childrens Hosp Westmead, Newborn Screening Programme, Westmead, NSW 2145, Australia

来源：

CLINICA CHIMICA ACTA | 2002年 / 322卷 / 1-2期

关键词：

tandem mass spectrometry; newborn screening;

D O I：

10.1016/S0009-8981(02)00135-3

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Tandem mass spectrometry (MS/MS) has become a key technology in the fields of biochemical genetics and newborn screening. The development of electrospray ionisation (ESI) and associated automation of sample handling and data manipulation have allowed the introduction of expanded newborn screening for disorders which feature accumulation of acylcarnitines and certain amino acids in a number of programs worldwide. In addition, the technique has proven valuable in several areas of biochemical genetics including quantification of carnitine and acylcarnitines, in vitro studies of metabolic pathways (in particular beta-oxidation), and diagnosis of peroxisomal and lysosomal disorders. This review covers some of the basic theory of MS/MS and focuses on the practical application of the technique in these two interrelated areas. (C) 2002 Elsevier Science B.V. All rights reserved.

引用

页码：1 / 10

页数：10

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