Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia’s newborn screening programme

Acylcarnitine and amino acid analyses of dried blood spot (DBS) samples using tandem mass spectrometry in newborn screening (NBS) programmes can generate false positive (FP) results. Therefore, implementation of second-tier tests (2TTs) using DBS samples has become increasingly important to avoid FP...

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Veröffentlicht in:	Clinical chemistry and laboratory medicine 2024-02, Vol.62 (3), p.493-505
Hauptverfasser:	Pajares-García, Sonia, González de Aledo-Castillo, José Manuel, Flores-Jiménez, José Eduardo, Collado, Tatiana, Pérez, Judit, Paredes-Fuentes, Abraham José, Argudo-Ramírez, Ana, López-Galera, Rosa María, Prats, Blanca, García-Villoria, Judit
Format:	Artikel
Sprache:	eng
Schlagworte:	Aciduria acylcarnitines acylglycines Amino Acid Metabolism, Inborn Errors Amino acids Antibiotics Blood Brain Diseases, Metabolic Carnitine - analogs & derivatives Chromatography Chromatography, Liquid - methods Disorders Dried Blood Spot Testing - methods Genetic disorders Glutaryl-CoA Dehydrogenase - deficiency Homocysteine Humans Infant, Newborn Isomers Liquid chromatography Mass spectrometry Mass spectroscopy Medical screening Metabolites Neonatal Screening - methods Neonates newborn screening Organic acids Orotic acid Oxidation Quality control Scientific imaging second-tier test Spain Tandem Mass Spectrometry - methods Urea Vitamin B12 Vitamin deficiency
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