Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1] W...

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Detalles Bibliográficos
Autores principales: Maramattom, Boby Varkey, Raja, Rajat, Balagopal, Anuroop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/
https://www.ncbi.nlm.nih.gov/pubmed/27570396
http://dx.doi.org/10.4103/0972-2327.167701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980967/
https://www.ncbi.nlm.nih.gov/pubmed/27570396
http://dx.doi.org/10.4103/0972-2327.167701

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