MRI features in 17 patients with l2 hydroxyglutaric aciduria

l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually observed in children. Patients present a very slowly progressive deterioration with cerebellar ataxia, mild or severe mental retardation, and various other clinical signs including extrapyramidal and pyramidal sympto...

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Bibliographic Details
Main Authors: Fourati, Héla, Ellouze, Emna, Ahmadi, Mourad, Chaari, Dhouha, Kamoun, Fatma, Hsairi, Ines, Triki, Chahnez, Mnif, Zeineb
Format: Online
Language:English
Published: Elsevier 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043405/