Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

被引：31
作者：
Röschinger, W
Olgemöller, B
Fingerhut, R
Liebl, B
Roscher, AA
机构：
[1] Univ Munich, Dr von Hauner Childrens Hosp, Dept Biochem Genet & Mol Biol, Res Ctr, D-80337 Munich, Germany
[2] Lab Becker Olgemoller & Colleagues, Munich, Germany
[3] Publ Hlth Newborn Screening Ctr State Bavaria, Oberschleissheim, Germany
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 2003年 / 162卷 / Suppl 1期
关键词：
high risk screening; inherited metabolic disease; mass spectrometry; newborn screening;
D O I：
10.1007/s00431-003-1356-y
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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. Conclusion: This overview aims to describe only current new developments in clinically most relevant applications, in particular with focus on low molecular weight compounds.
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收藏
页码：S67 / S76
页数：10
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