Llwytho...
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-...
Wedi'i Gadw mewn:
| Prif Awdur: | |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
2013
|
| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|