Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.
Yazar
Sander, Johannes
Demirkol, Mubeccel
Peter, Michael
Luecke, Thomas
Das, Anibh M.
Gokcay, Gülden Fatma
Janzen, Nils
Terhardt, Michael
Sander, Stefanie
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Background: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D). Inclusion of OA into newborn screening compatibility with existing analytical procedures is necessary.
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- Makale [92796]