Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing

INTRODUCTION: In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders....

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Udgivet i:Zdr Varst
Main Authors: Lampret, Barbka Repič, Remec, Žiga Iztok, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Šmon, Andraz, Koračin, Vanesa, Čuk, Vanja, Perko, Daša, Ulaga, Blanka, Jelovšek, Ana Marija, Debeljak, Maruša, Kovač, Jernej, Battelino, Tadej, Grošelj, Urh
Format: Artigo
Sprog:Inglês
Udgivet: Sciendo 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7583424/
https://ncbi.nlm.nih.gov/pubmed/33133282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/sjph-2020-0032
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