Novel LC-MS tools for diagnosing inborn errors of metabolism
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F21%3A73610021" target="_blank" >RIV/61989592:15110/21:73610021 - isvavai.cz</a>
Alternative codes found
RIV/00098892:_____/21:N0000229
Result on the web
<a href="https://reader.elsevier.com/reader/sd/pii/S0026265X21007402?token=A7620F3FF25997D23901E01F090DD96FD11C9535F3C84276B1F9E800789AD17A1AB5369F74A05F8FB30DEFD971760F47&originRegion=eu-west-1&originCreation=20220121102844" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S0026265X21007402?token=A7620F3FF25997D23901E01F090DD96FD11C9535F3C84276B1F9E800789AD17A1AB5369F74A05F8FB30DEFD971760F47&originRegion=eu-west-1&originCreation=20220121102844</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.microc.2021.106654" target="_blank" >10.1016/j.microc.2021.106654</a>
Alternative languages
Result language
angličtina
Original language name
Novel LC-MS tools for diagnosing inborn errors of metabolism
Original language description
Diagnosing a large group of inborn errors of metabolism poses a great challenge for physicians due to the mostly non-specific clinical picture. Therefore, laboratory methods have become indispensable in the process of differential diagnosis. With the technological advances of liquid chromatography and mass spectrometry (LC-MS), the diagnostic possibilities have expanded considerably. In the last two decades, LC-MS has been used primarily for multicomponent analysis of metabolites for the diagnosis of a wide range of diseases. In addition, the technique has begun to be successfully applied in metabolomics and lipidomics, which provide both information on the overall profile of small molecules and have the ability to find new potential biomarkers for selected diseases. This review discusses directions and aspects of LC-MS-based laboratory diagnosing in the field of inborn errors of metabolism.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10406 - Analytical chemistry
Result continuities
Project
<a href="/en/project/NU20-08-00367" target="_blank" >NU20-08-00367: New biomarkers of inherited metabolic diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
MICROCHEMICAL JOURNAL
ISSN
0026-265X
e-ISSN
—
Volume of the periodical
2021
Issue of the periodical within the volume
170
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
17
Pages from-to
"nestránkováno"
UT code for WoS article
000713236500004
EID of the result in the Scopus database
2-s2.0-85111497512