Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is a nuclear-encoded gene that produces a protein involved in mitochondrial translation. MTFMT formylates a portion of Met-tRNA(Met), which allows for translation initiation of mitochondrial mRNA. Mutations in this gene have been shown to result...

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Detalles Bibliográficos
Autores principales: Bennett, Jennifer, Kerr, Marina, Greenway, Steven C., Friederich, Marisa W., Van Hove, Johan L.K., Hittel, Dustin, Khan, Aneal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303673/
https://www.ncbi.nlm.nih.gov/pubmed/32577402
http://dx.doi.org/10.1016/j.ymgmr.2020.100616

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