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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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Detaylı Bibliyografya
Yayımlandı:Ann Indian Acad Neurol
Asıl Yazarlar: Maramattom, Boby Varkey, Raja, Rajat, Balagopal, Anuroop
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Medknow Publications & Media Pvt Ltd 2016
Konular:
Online Erişim: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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