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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Detalles Bibliográficos
Autores principales: Chandler, Randy J, Sloan, Jennifer, Fu, Hong, Tsai, Matthew, Stabler, Sally, Allen, Robert, Kaestner, Klaus H, Kazazian, Haig H, Venditti, Charles P
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2140053/
https://www.ncbi.nlm.nih.gov/pubmed/17937813
http://dx.doi.org/10.1186/1471-2350-8-64

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