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...
Main Authors: | , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Elsevier
2016
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043405/ |