Llwytho...

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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Radiol Open
Prif Awduron: Fourati, Héla, Ellouze, Emna, Ahmadi, Mourad, Chaari, Dhouha, Kamoun, Fatma, Hsairi, Ines, Triki, Chahnez, Mnif, Zeineb
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5043405/
https://ncbi.nlm.nih.gov/pubmed/27709120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejro.2016.09.001
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