Novel LC-MS tools for diagnosing inborn errors of metabolism

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00098892:_____/21:N0000229

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Novel LC-MS tools for diagnosing inborn errors of metabolism

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Novel LC-MS tools for diagnosing inborn errors of metabolism

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10406 - Analytical chemistry

Projekt

<a href="/cs/project/NU20-08-00367" target="_blank" >NU20-08-00367: Nové biomarkery dědičných metabolických poruch</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2021

Kód důvěrnosti údajů

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

Název periodika

MICROCHEMICAL JOURNAL

ISSN

0026-265X

e-ISSN

—

Svazek periodika

2021

Číslo periodika v rámci svazku

170

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

17

Strana od-do

"nestránkováno"

Kód UT WoS článku

000713236500004

EID výsledku v databázi Scopus

2-s2.0-85111497512