Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent...

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Detalles Bibliográficos
Autores principales: Cavicchi, Catia, Chilleri, Chiara, Fioravanti, Antonella, Ferri, Lorenzo, Ripandelli, Francesco, Costa, Cinzia, Calabresi, Paolo, Prontera, Paolo, Pochiero, Francesca, Pasquini, Elisabetta, Funghini, Silvia, la Marca, Giancarlo, Donati, Maria Alice, Morrone, Amelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855567/
https://www.ncbi.nlm.nih.gov/pubmed/29364180
http://dx.doi.org/10.3390/ijms19020345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855567/
https://www.ncbi.nlm.nih.gov/pubmed/29364180
http://dx.doi.org/10.3390/ijms19020345

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