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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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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | 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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