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Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

A 59-year-old woman, with a medical history of intellectual disability after perinatal asphyxia, was admitted because of coma due to hyperammonemia after she was treated for a fracture of the pelvis. The ammonia level was 280 μM. Acquired disorders as explanation for the hyperammonemia were excluded...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: van de Logt, Anne-Els, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Janssen, Mirian C. H.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5272844/
https://ncbi.nlm.nih.gov/pubmed/27147233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_565
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