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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...
Gorde:
| Argitaratua izan da: | Ann Clin Transl Neurol |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | 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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