Molecular BiologybioRxivPreprint
Metabolic dysfunction related to specific genetic variant sites of methylmalonic acidemia
Haijuan Zhi, Yuxin Deng, Yi Ding…·Lianshu Han
The paper investigates metabolic differences in methylmalonic acidemia subtypes caused by specific genetic variants, identifying enriched metabolites associated with each mutation.
DOI 10.64898/2025.12.15.694311