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Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family
N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994713/ https://www.ncbi.nlm.nih.gov/pubmed/32021803 http://dx.doi.org/10.1016/j.ymgmr.2019.100558 |