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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476058/ https://www.ncbi.nlm.nih.gov/pubmed/32923369 http://dx.doi.org/10.1016/j.ymgmr.2020.100641 |