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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...
Autores principales: | Fourati, Héla, Ellouze, Emna, Ahmadi, Mourad, Chaari, Dhouha, Kamoun, Fatma, Hsairi, Ines, Triki, Chahnez, Mnif, Zeineb |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043405/ https://www.ncbi.nlm.nih.gov/pubmed/27709120 http://dx.doi.org/10.1016/j.ejro.2016.09.001 |
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