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.
引用
收藏
页码：S67 / S76
页数：10
相关论文
共 76 条
[1]   Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region [J].
Almeida, AM ;
Henthorn, JS ;
Davies, SC .
BRITISH JOURNAL OF HAEMATOLOGY, 2001, 112 (01) :32-35
[2]   Quantitation of tryptophan, kynurenine and kynurenic acid in human plasma by capillary liquid chromatography-electrospray ionization tandem mass spectrometry [J].
Amirkhani, A ;
Heldin, E ;
Markides, KE ;
Bergquist, J .
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, 2002, 780 (02) :381-387
[3]   Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry [J].
Bodamer, OA ;
Bloesch, SM ;
Gregg, AR ;
Stockler-Ipsiroglu, S ;
O'Brien, WE .
CLINICA CHIMICA ACTA, 2001, 308 (1-2) :173-178
[4]   Application of tandem mass spectrometry to biochemical genetics and newborn screening [J].
Carpenter, KH ;
Wiley, V .
CLINICA CHIMICA ACTA, 2002, 322 (1-2) :1-10
[5]  
CHACE DH, 1993, CLIN CHEM, V39, P66
[6]  
Chace DH, 2001, CLIN CHEM, V47, P1166
[7]   Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium [J].
Chace, DH ;
DiPerna, JC ;
Naylor, EW .
ACTA PAEDIATRICA, 1999, 88 :45-47
[8]   Mass spectrometry: An emerging alternative to traditional methods for measurement of diagnostic proteins, peptides and amino acids [J].
Dalluge, JJ .
CURRENT PROTEIN & PEPTIDE SCIENCE, 2002, 3 (02) :181-190
[9]  
Davies SC, 2000, HEALTH TECHNOL ASSES, V4, P1
[10]   Remethylation defects: guidelines for clinical diagnosis and treatment [J].
de Baulny, HO ;
Gerard, M ;
Saudubray, JM ;
Zittoun, J .
EUROPEAN JOURNAL OF PEDIATRICS, 1998, 157 (Suppl 2) :S77-S83
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