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MEGDEL Syndrome and Its Anesthetic Implications

MEGDEL syndrome gains its name for its following features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), Leigh-like syndrome (L). This syndrome is caused by biallelic mutations in the serine active site-containing protein 1 (SERAC1 ) gene. When these patients present with hepa...

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Detalles Bibliográficos
Autores principales: Horvath, Balazs, Pfister, Kathleen M, Rupp, Alexis, Kloesel, Benjamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8423315/
https://www.ncbi.nlm.nih.gov/pubmed/34540505
http://dx.doi.org/10.7759/cureus.17761