Φορτώνει......
Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots
BACKGROUND: Orotic aciduria in the presence of hyperammonemia is a key indicator for a defect in the urea cycle, specifically ornithine transcarbamylase (OTC) deficiency. Current newborn screening (NBS) protocols can detect several defects of the urea cycle, but screening for OTC deficiency remains...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Chim Acta |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4835024/ https://ncbi.nlm.nih.gov/pubmed/24886687 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2014.05.016 |
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