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Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review
Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8‐year‐old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the bioche...
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| Udgivet i: | Ann Clin Transl Neurol |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7818142/ https://ncbi.nlm.nih.gov/pubmed/33249780 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51257 |
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