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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Detalles Bibliográficos
Autores principales: Ersoy, Melike, Tiranti, Valeria, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
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

Internet

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

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