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

BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in...

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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: Monostori, Péter, Klinke, Glynis, Richter, Sylvia, Baráth, Ákos, Fingerhut, Ralph, Baumgartner, Matthias R., Kölker, Stefan, Hoffmann, Georg F., Gramer, Gwendolyn, Okun, Jürgen G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2017
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5600371/
https://ncbi.nlm.nih.gov/pubmed/28915261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0184897
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