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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...
में बचाया:
| में प्रकाशित: | Clin Chim Acta |
|---|---|
| मुख्य लेखकों: | , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2014
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| विषय: | |
| ऑनलाइन पहुंच: | 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 |
| टैग : |
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