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Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
BACKGROUND: N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since its recognition in 1981, NAGS deficiency has been treated wi...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545900/ https://www.ncbi.nlm.nih.gov/pubmed/33036647 http://dx.doi.org/10.1186/s13023-020-01560-z |