ロード中...
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-...
保存先:
| 第一著者: | |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2013
|
| 主題: | |
| オンライン･アクセス: | 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 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|