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Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation
Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1 protein, a mitochondrial dioxygenase involved in hydrogen sulfide (H(2)S) detoxification. EE is usually a fatal disease with a severe clinical course mainly associated with developmental delay and regression...
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| Publicado en: | Mol Genet Metab Rep |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7476058/ https://ncbi.nlm.nih.gov/pubmed/32923369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100641 |
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