A carregar...
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-...
Na minha lista:
| Autor principal: | |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2013
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|