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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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Detalhes bibliográficos
Main Authors: Işıkay, Sedat, Carman, Kursat Bora
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
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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