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Recurrent Encephalopathy: NAGS (N-acetylglutamate synthase) Deficiency in Adults

Urea cycle disorders (UCDs) are a group of uncommon heterogeneous conditions that are often detected in childhood and only rarely in adults where the presentations are subtle or non specific with symptoms of confusion and encephalopathy. N-acetyl-glutamate synthase (NAGS) deficiency is a rare urea c...

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Hlavní autoři: Cartagena, A, Prasad, AN, Rupar, CA, Strong, M, Tuchman, M, Ah Mew, N, Prasad, C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4131410/
https://ncbi.nlm.nih.gov/pubmed/23250120
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