The proteome of methylmalonic acidemia (MMA): elucidation of altered pathways in patient livers

Methylmalonic acidemia (MMA) is a heterogeneous and severe autosomal recessive inborn error of metabolism most commonly caused by the deficient activity of the vitamin B12 dependent enzyme, methylmalonyl-CoA mutase (MUT). The main treatment for MMA patients is dietary restriction of propiogenic amin...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Biosyst
Päätekijät: Caterino, Marianna, Chandler, Randy J., Sloan, Jennifer L., Dorko, Kenneth, Cusmano-Ozog, Kristina, Ingenito, Laura, Strom, Stephen C., Imperlini, Esther, Scolamiero, Emanuela, Venditti, Charles P., Ruoppolo, Margherita
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4858437/
https://ncbi.nlm.nih.gov/pubmed/26672496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1039/c5mb00736d
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