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N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life‐threatening episodes of hyperammonaemia, both in the neonatal period and also...

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Detalles Bibliográficos
Autores principales:	Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458610/ https://www.ncbi.nlm.nih.gov/pubmed/36101823 http://dx.doi.org/10.1002/jmd2.12318

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