-
Something wrong with this record ?
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy
P. Wojtowicz, J. Zrostlíková, T. Kovalczuk, J. Schůrek, T. Adam
Language English Country Netherlands
Document type Evaluation Study, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Electronic Data Processing methods MeSH
- Humans MeSH
- Urine chemistry MeSH
- Gas Chromatography-Mass Spectrometry instrumentation methods MeSH
- Metabolism, Inborn Errors diagnosis urine MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Evaluation Study MeSH
- Research Support, Non-U.S. Gov't MeSH
Organic acidurias are a large group of inherited metabolic disorders (IMDs), commonly diagnosed by GC-MS analysis of organic acids in urine after acidic extraction and trimethylsilylation. In this study, a GC×GC-ToF-MS method has been optimized for the analysis of pathological metabolites in urine. An automated data processing strategy based on the use of mass spectra and GC retention times for the target search and quantification of pathological metabolites has been developed. Using this procedure, each unknown sample is automatically examined for the presence of markers of several diseases at the same time. The method has been applied for the analysis of 6 challenging proficiency testing samples from patients with IMDs (thymidine phosphorylase deficiency, mevalonic aciduria, hawkinsinuria, aromatic l-amino acid decarboxylase deficiency, propionic acidemia and medium-chain acyl-CoA dehydrogenase deficiency). Using the GC×GC-ToF-MS method, we were able to determine complete sets of markers for all the IMDs. The quality of the mass spectral matches for the pathological markers was higher than 800 (out of 1000).
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc12026703
- 003
- CZ-PrNML
- 005
- 20160307111923.0
- 007
- ta
- 008
- 120816s2010 ne f 000 0#eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.chroma.2010.09.067 $2 doi
- 035 __
- $a (PubMed)20961553
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a ne
- 100 1_
- $a Wojtowicz, Petr $7 _AN066860 $u Laboratory of Inherited Metabolic Disorders and Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University, Tř. Svobody 8, 771 26 Olomouc, Czech Republic
- 245 10
- $a Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy / $c P. Wojtowicz, J. Zrostlíková, T. Kovalczuk, J. Schůrek, T. Adam
- 520 9_
- $a Organic acidurias are a large group of inherited metabolic disorders (IMDs), commonly diagnosed by GC-MS analysis of organic acids in urine after acidic extraction and trimethylsilylation. In this study, a GC×GC-ToF-MS method has been optimized for the analysis of pathological metabolites in urine. An automated data processing strategy based on the use of mass spectra and GC retention times for the target search and quantification of pathological metabolites has been developed. Using this procedure, each unknown sample is automatically examined for the presence of markers of several diseases at the same time. The method has been applied for the analysis of 6 challenging proficiency testing samples from patients with IMDs (thymidine phosphorylase deficiency, mevalonic aciduria, hawkinsinuria, aromatic l-amino acid decarboxylase deficiency, propionic acidemia and medium-chain acyl-CoA dehydrogenase deficiency). Using the GC×GC-ToF-MS method, we were able to determine complete sets of markers for all the IMDs. The quality of the mass spectral matches for the pathological markers was higher than 800 (out of 1000).
- 650 _2
- $a automatizované zpracování dat $x metody $7 D001330
- 650 _2
- $a plynová chromatografie s hmotnostně spektrometrickou detekcí $x přístrojové vybavení $x metody $7 D008401
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a vrozené poruchy metabolismu $x diagnóza $x moč $7 D008661
- 650 _2
- $a moč $x chemie $7 D014556
- 655 _2
- $a hodnotící studie $7 D023362
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Zrostlíková, Jitka $u LECO Application Laboratory, Sokolovská 219, 190 00 Praha 9, Czech Republic
- 700 1_
- $a Kovalczuk, Tomáš $7 _AN050270 $u LECO Application Laboratory, Sokolovská 219, 190 00 Praha 9, Czech Republic
- 700 1_
- $a Schůrek, Jakub $7 xx0019122 $u LECO Application Laboratory, Sokolovská 219, 190 00 Praha 9, Czech Republic
- 700 1_
- $a Adam, Tomáš, $d 1965- $7 xx0054162 $u Laboratory of Inherited Metabolic Disorders and Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University, Tř. Svobody 8, 771 26 Olomouc, Czech Republic
- 773 0_
- $w MED00004962 $t Journal of chromatography. A $x 1873-3778 $g Roč. 1217, č. 51 (2010), s. 8054-8061
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/20961553 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y m $z 0
- 990 __
- $a 20120816 $b ABA008
- 991 __
- $a 20160307111940 $b ABA008
- 999 __
- $a ok $b bmc $g 948745 $s 784049
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2010 $b 1217 $c 51 $d 8054-8061 $e 20101001 $i 1873-3778 $m Journal of chromatography. A, Including electrophoresis and other separation methods $n J Chromatogr A $x MED00004962
- LZP __
- $b NLK122 $a Pubmed-20120816/11/01
