Biochemical and Anaplerotic Applications of In Vitro Models of Propionic Acidemia and Methylmalonic Acidemia Using Patient-Derived Primary Hepatocytes

Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively. The functional consequence of PA or...

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Publicat a:Mol Genet Metab
Autors principals: Collado, M. Sol, Armstrong, Allison J., Olson, Matthew, Hoang, Stephen A., Day, Nathan, Summar, Marshall, Chapman, Kimberly A., Reardon, John, Figler, Robert A., Wamhoff, Brian R.
Format: Artigo
Idioma:Inglês
Publicat: 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7337260/
https://ncbi.nlm.nih.gov/pubmed/32451238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.05.003
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