Ákos Baráth
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Comparison of different preparation techniques of dried blood spot quality controls in newborn screening for congenital adrenal hyperplasia
Loading metrics Open Access Peer-reviewed Research Article Nóra Grecsó , Anita Zádori, Ákos Baráth, Zsolt Galla, Gábor Rácz, Csaba Bereczki, Péter Monostori Nóra Grecsó, Anita Zádori, Ákos Baráth, Zsolt Galla, Gábor Rácz, Csaba Bereczki, Péter Monostori Published: May 20, 2021 https://doi.org/10.1371/journal.pone.0252091 Figures Abstract In newborn screening, samples suspected for congenital adrenal hyperplasia (CAH), a potentially lethal inborn error of steroid biosynthesis, need to be...
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
A liquid chromatography–tandem mass spectrometry assay allowing simultaneous determination of the biomarkers 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in DBSs has been developed. The assay can use the same specimen as in primary screening (second-tier test) which may reduce the need for repeated blood sampling. The presented preliminary findings suggest that this method can reliably differentiate patients with PA and MMACBL in newborn screening.
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