A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).()

PURPOSE: Cobalamin C (cblC) deficiency impairs the biosynthesis of adenosyl- and methylcobalamin resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia. However, some patients with cblC deficiency are treated with medical foods, devoid of methionine and high in...

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Publicado no:Genet Med
Main Authors: Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752912/
https://ncbi.nlm.nih.gov/pubmed/26270766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.107
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