A carregar...
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...
Na minha lista:
| Publicado no: | Clin Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|