Röschinger Wulf, Olgemöller Bernhard, Fingerhut Ralph, Liebl Bernhard, Roscher Adelbert A
Research Center, Department of Biochemical Genetics and Molecular Biology, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, 80337, Munich, Germany.
Eur J Pediatr. 2003 Dec;162 Suppl 1:S67-76. doi: 10.1007/s00431-003-1356-y. Epub 2003 Nov 14.
Gas chromatography/mass spectrometry became available more than 30 years ago and has subsequently profoundly contributed not only in the identification of a wide range of inborn errors but also as a key tool for clinical diagnostic screening of genetic metabolic disease. Due to extraordinary advances in liquid chromatography and mass spectrometry (MS) developed in the last decade, the utilisation of MS and the potential number of applications for the purpose of metabolic screening is currently undergoing considerable expansion.
This overview aims to describe only current new developments in clinically most relevant applications, in particular with focus on low molecular weight compounds.
气相色谱/质谱技术在30多年前就已问世，随后不仅在多种先天性疾病的鉴定方面做出了深远贡献，而且作为遗传代谢疾病临床诊断筛查的关键工具。由于过去十年液相色谱和质谱（MS）技术取得了非凡进展，目前MS在代谢筛查中的应用及其潜在应用数量正在大幅扩展。
本综述旨在仅描述临床最相关应用中的当前新进展，尤其侧重于低分子量化合物。
