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Primary Hyperammonaemia: Current Diagnostic and Therapeutic Strategies
Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Sciendo
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518097/ https://www.ncbi.nlm.nih.gov/pubmed/33179600 http://dx.doi.org/10.34763/jmotherandchild.20202402si.2015.000006 |