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...

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Detalles Bibliográficos
Autores principales: Kenneson, Aileen, Singh, Rani H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
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

Internet

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

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