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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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| 出版年: | Mol Genet Metab |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
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| 主題: | |
| オンライン･アクセス: | 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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