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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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Detalhes bibliográficos
Publicado no:Ann Indian Acad Neurol
Main Authors: Maramattom, Boby Varkey, Raja, Rajat, Balagopal, Anuroop
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4980967/
https://ncbi.nlm.nih.gov/pubmed/27570396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.167701
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