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Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BACKGROUND: Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation. For undetermined reasons, transplantation does not corr...

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Detalhes bibliográficos
Main Authors: Chandler, Randy J, Sloan, Jennifer, Fu, Hong, Tsai, Matthew, Stabler, Sally, Allen, Robert, Kaestner, Klaus H, Kazazian, Haig H, Venditti, Charles P
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2140053/
https://ncbi.nlm.nih.gov/pubmed/17937813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-64
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