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Mitochondrial dysfunction in mut methylmalonic acidemia

Methylmalonic acidemia is an autosomal recessive inborn error of metabolism caused by defective activity of methylmalonyl-CoA mutase (MUT) that exhibits multiorgan system pathology. To examine whether mitochondrial dysfunction is a feature of this organic acidemia, a background-modified Mut-knockout...

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Bibliographic Details
Main Authors: Chandler, Randy J., Zerfas, Patricia M., Shanske, Sara, Sloan, Jennifer, Hoffmann, Victoria, DiMauro, Salvatore, Venditti, Charles P.
Format: Artigo
Language:Inglês
Published: The Federation of American Societies for Experimental Biology 2009
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2660647/
https://ncbi.nlm.nih.gov/pubmed/19088183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.08-121848
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