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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 nonācurative as the underlying causative molecular mechanisms remain unknown. While…
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Keywords:
pathophysiology methylmalonic;
methylmalonic acidemia;
acidemia;
insights pathophysiology ... See more keywords