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Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

BACKGROUND: Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA to methyl malonyl CoA. This leads to profound changes in distinct metabolic pathways, including the urea cycle, with consequenc...

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Detalles Bibliográficos
Autores principales: Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Ruiz-Sala, Pedro, del Valle, Mercedes, Garcia, Fernando, Arrieta, Francisco, Martinez-Pardo, Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167193/
https://www.ncbi.nlm.nih.gov/pubmed/35098378
http://dx.doi.org/10.1007/s00726-022-03128-6