Associated Papers
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2022
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.
Torices L et al.
Molecular Genetics and Metabolism Reports, 2021
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
Devi AR et al.
Clinical Biochemistry, 2017
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