Associated Papers
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2022
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Plessl T et al.
Human Mutation, 2017
Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.
Hubbard PA et al.
The Journal of Biological Chemistry, 2007
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.
Human Mutation, 2004
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