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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-...
Αποθηκεύτηκε σε:
| Κύριος συγγραφέας: | |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2013
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| Θέματα: | |
| Διαθέσιμο Online: | 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 |
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