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Statements

Subject Item
n2:RIV%2F61989592%3A15110%2F12%3A33148460%21RIV14-MSM-15110___
rdf:type
skos:Concept n15:Vysledek
rdfs:seeAlso
http://ac.els-cdn.com/S0021967311014658/1-s2.0-S0021967311014658-main.pdf?_tid=f404e958-a062-11e3-978f-00000aab0f27&acdnat=1393583441_586ec8e5002adcc2f0d6341f76aae105
dcterms:description
Metabolomics has become an important tool in clinical research and diagnosis of human diseases. In this work we focused on the diagnosis of inherited metabolic disorders (IMDs) in plasma samples using a targeted metabolomic approach. The plasma samples were analyzed with the flow injection analysis method. All the experiments were performed on a QTRAP 5500 tandem mass spectrometer (AB SCIEX, USA) with electrospray ionization. The compounds were measured in a multiple reaction monitoring mode. We analyzed 50 control samples and 34 samples with defects in amino acid metabolism (phenylketonuria, maple syrup urine disease, tyrosinemia I, argininemia, homocystinuria, carbamoyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, nonketotic hyperglycinemia), organic acidurias (methylmalonic aciduria, propionic aciduria, glutaric aciduria I, 3-hydroxy-3-methylglutaric aciduria, isovaleric aciduria), and mitochondrial defects (medium-chain acyl-coenzyme A dehydrogenase deficiency, carnitine palmitoyltransferase II deficiency). The controls were distinguished from the patient samples by principal component analysis and hierarchical clustering. Approximately 80% of patients were clearly detected by absolute metabolite concentrations, the sum of variance for first two principle components was in the range of 44-55%. Other patient samples were assigned due to the characteristic ratio of metabolites (the sum of variance for first two principle components 77 and 83%). This study has revealed that targeted metabolomic tools with automated and unsupervised processing can be applied for the diagnosis of various IMDs. Metabolomics has become an important tool in clinical research and diagnosis of human diseases. In this work we focused on the diagnosis of inherited metabolic disorders (IMDs) in plasma samples using a targeted metabolomic approach. The plasma samples were analyzed with the flow injection analysis method. All the experiments were performed on a QTRAP 5500 tandem mass spectrometer (AB SCIEX, USA) with electrospray ionization. The compounds were measured in a multiple reaction monitoring mode. We analyzed 50 control samples and 34 samples with defects in amino acid metabolism (phenylketonuria, maple syrup urine disease, tyrosinemia I, argininemia, homocystinuria, carbamoyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, nonketotic hyperglycinemia), organic acidurias (methylmalonic aciduria, propionic aciduria, glutaric aciduria I, 3-hydroxy-3-methylglutaric aciduria, isovaleric aciduria), and mitochondrial defects (medium-chain acyl-coenzyme A dehydrogenase deficiency, carnitine palmitoyltransferase II deficiency). The controls were distinguished from the patient samples by principal component analysis and hierarchical clustering. Approximately 80% of patients were clearly detected by absolute metabolite concentrations, the sum of variance for first two principle components was in the range of 44-55%. Other patient samples were assigned due to the characteristic ratio of metabolites (the sum of variance for first two principle components 77 and 83%). This study has revealed that targeted metabolomic tools with automated and unsupervised processing can be applied for the diagnosis of various IMDs.
dcterms:title
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
skos:prefLabel
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
skos:notation
RIV/61989592:15110/12:33148460!RIV14-MSM-15110___
n15:predkladatel
n19:orjk%3A15110
n3:aktivita
n9:V n9:Z n9:I n9:S n9:P
n3:aktivity
I, P(ED0030/01/01), S, V, Z(MSM6198959205), Z(MSM6198959214)
n3:cisloPeriodika
February 2012
n3:dodaniDat
n14:2014
n3:domaciTvurceVysledku
n5:2714035 n5:6401309 n5:6402682 n5:6913458 n5:1295284 n5:3626318
n3:druhVysledku
n16:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n21:predkladatel
n3:idSjednocenehoVysledku
173265
n3:idVysledku
RIV/61989592:15110/12:33148460
n3:jazykVysledku
n22:eng
n3:klicovaSlova
Hierarchical cluster analysis; Principal component analysis; Tandem mass spectrometry; Flow injection analysis; Inherited metabolic disorders; Targeted metabolomics
n3:klicoveSlovo
n7:Targeted%20metabolomics n7:Inherited%20metabolic%20disorders n7:Tandem%20mass%20spectrometry n7:Hierarchical%20cluster%20analysis n7:Principal%20component%20analysis n7:Flow%20injection%20analysis
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[B7987AE7E1F8]
n3:nazevZdroje
Journal of Chromatography A: Symposium Volumes
n3:obor
n4:CB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
16
n3:projekt
n6:ED0030%2F01%2F01
n3:rokUplatneniVysledku
n14:2012
n3:svazekPeriodika
1226
n3:tvurceVysledku
Procházková, Dagmar Wojtowicz, Petr Adam, Tomáš Friedecký, David Barešová, Anna Janečková, Hana Smolka, Vratislav Behúlová, Darina Hron, Karel Vinohradská, Hana Bruheim, Per Pešková, Karolína Hornik, Petr Hlídková, Eva Žídková, Lenka Šťastná, Sylvie
n3:wos
000301307200003
n3:zamer
n17:MSM6198959214 n17:MSM6198959205
s:issn
0021-9673
s:numberOfPages
7
n18:doi
10.1016/j.chroma.2011.09.074
n11:organizacniJednotka
15110