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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...
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| Publicado no: | Clin Chim Acta |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | 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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