Articles with "pathophysiology methylmalonic" as a keyword



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New insights into the pathophysiology of methylmalonic acidemia

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Published in 2023 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12617

Abstract: Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. Treatment options are limited and non‐curative as the underlying causative molecular mechanisms remain unknown. While… read more here.

Keywords: pathophysiology methylmalonic; methylmalonic acidemia; acidemia; insights pathophysiology ... See more keywords