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Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria
l-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical findings are characterised by progressive neurological syndrome with cerebellar signs, mental deterioration and macrocephaly. Diagnosis is via increased levels of l-2 hydrox...
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| Auteurs principaux: | , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2013
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3702836/ https://ncbi.nlm.nih.gov/pubmed/23784758 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-008917 |
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