Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A10984" target="_blank" >RIV/00216208:11110/12:10984 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/12:00059374 RIV/61989592:15310/12:33119502 RIV/61989592:15110/12:33119502 RIV/00064165:_____/12:10984 and 2 more

Result on the web

<a href="http://dx.doi.org/10.1016/j.chroma.2011.09.074" target="_blank" >http://dx.doi.org/10.1016/j.chroma.2011.09.074</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

Original language 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 defic

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

CB - Analytical chemistry, separation

OECD FORD branch

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Project

<a href="/en/project/ED0030%2F01%2F01" target="_blank" >ED0030/01/01: Biomedicine for regional development and human resources</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Chromatography A

ISSN

0021-9673

e-ISSN

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Volume of the periodical

1226

Issue of the periodical within the volume

Feb 24

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

7

Pages from-to

11-17

UT code for WoS article

000301307200003

EID of the result in the Scopus database

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