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L-2 Hydroxyglutaric aciduria presenting with status epilepticus

L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-...

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Detalles Bibliográficos
Autor Principal: Işikay, Sedat
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2013
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3702940/
https://ncbi.nlm.nih.gov/pubmed/23749865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-010164
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