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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Bibliografische gegevens
Gepubliceerd in:JIMD Rep
Hoofdauteurs: Lucienne, Marie, Mathis, Déborah, Perkins, Nathan, Fingerhut, Ralph, Baumgartner, Matthias R., Froese, D. Sean
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2020
Onderwerpen:
Research Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7932858/
https://ncbi.nlm.nih.gov/pubmed/33728246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12182
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