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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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Autori principali: Işıkay, Sedat, Carman, Kursat Bora
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2013
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Accesso online: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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