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Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous Szt2 variants. We provide the first evidence that these Szt2 variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinic...
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| Publicat a: | Clin Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6293145/ https://ncbi.nlm.nih.gov/pubmed/30564332 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1868 |
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