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Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

Methylmalonyl‐CoA mutase (MMUT) is part of the propionyl‐CoA catabolic pathway, responsible for the breakdown of branched‐chain amino acids, odd‐chain fatty acids and the side‐chain of cholesterol. Patients with deficient activity of MMUT suffer from isolated methylmalonic aciduria (MMAuria), freque...

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Detalles Bibliográficos
Autores principales: Lucienne, Marie, Mathis, Déborah, Perkins, Nathan, Fingerhut, Ralph, Baumgartner, Matthias R., Froese, D. Sean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932858/
https://www.ncbi.nlm.nih.gov/pubmed/33728246
http://dx.doi.org/10.1002/jmd2.12182