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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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Détails bibliographiques
Publié dans:Ann Indian Acad Neurol
Auteurs principaux: Maramattom, Boby Varkey, Raja, Rajat, Balagopal, Anuroop
Format: Artigo
Langue:Inglês
Publié: Medknow Publications & Media Pvt Ltd 2016
Sujets:
Accès en ligne: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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