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

• Main Authors: Kaestner Klaus H (Author), Allen Robert (Author), Stabler Sally (Author), Tsai Matthew (Author), Fu Hong (Author), Sloan Jennifer (Author), Chandler Randy J (Author), Kazazian Haig H (Author), Venditti Charles P (Author)
• Format: Book
• Published: BMC, 2007-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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....