Yüklüyor......
L-2 Hydroxyglutaric aciduria presenting with status epilepticus
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and the presence of L-...
Kaydedildi:
| Yazar: | |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Publishing Group
2013
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3702940/ https://ncbi.nlm.nih.gov/pubmed/23749865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-010164 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|