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Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficie...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712149/ https://www.ncbi.nlm.nih.gov/pubmed/33124615 http://dx.doi.org/10.3390/ijns6040077 |