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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Işıkay, Sedat, Carman, Kursat Bora
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2013
Aiheet:
Linkit: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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