Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294506" target="_blank" >RIV/00216208:11110/15:10294506 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10294506

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.clinbiochem.2014.10.004" target="_blank" >http://dx.doi.org/10.1016/j.clinbiochem.2014.10.004</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.clinbiochem.2014.10.004" target="_blank" >10.1016/j.clinbiochem.2014.10.004</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Popis výsledku v původním jazyce

Objectives: Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determination of succinyladenosine (SAdo) and succinylaminoimidazole carboxamide riboside (SAICAr), biomarkers for adenylosuccinate lyase deficiency (dADSL), in DBS. Design and methods: SAICAr and SAdo were separated on a Symmetry-C18 column and detected using positive electrospray ionisation in selected reaction monitoring mode. The quantification was performed using the isotopically labelled internal standards SAdo-C-13(4) and SAICAr-C-13(4), which were prepared via ADSL-catalysed reactions of fumarate-C-13(4) with adenosine monophosphate and aminoimidazole carboxamide ribotide, respectively, and subsequent alkaline phosphatase-catalysed dephosphorylation of the resulting products. Results: The detection of SAICAr and SAdo in DBS was li

Název v anglickém jazyce

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots

Popis výsledku anglicky

Objectives: Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determination of succinyladenosine (SAdo) and succinylaminoimidazole carboxamide riboside (SAICAr), biomarkers for adenylosuccinate lyase deficiency (dADSL), in DBS. Design and methods: SAICAr and SAdo were separated on a Symmetry-C18 column and detected using positive electrospray ionisation in selected reaction monitoring mode. The quantification was performed using the isotopically labelled internal standards SAdo-C-13(4) and SAICAr-C-13(4), which were prepared via ADSL-catalysed reactions of fumarate-C-13(4) with adenosine monophosphate and aminoimidazole carboxamide ribotide, respectively, and subsequent alkaline phosphatase-catalysed dephosphorylation of the resulting products. Results: The detection of SAICAr and SAdo in DBS was li

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Clinical Biochemistry

ISSN

0009-9120

e-ISSN

—

Svazek periodika

48

Číslo periodika v rámci svazku

1-2

Stát vydavatele periodika

CA - Kanada

Počet stran výsledku

6

Strana od-do

2-7

Kód UT WoS článku

000346852900002

EID výsledku v databázi Scopus

2-s2.0-84920278142