Associated Papers
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P et al.
Human Genetics, 2022
Patient mutations in human ATP:cob(I)alamin adenosyltransferase differentially affect its catalytic versus chaperone functions.
Gouda H et al.
The Journal of Biological Chemistry, 2021
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.
Zhang J et al.
Molecular Genetics and Metabolism, 2009
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP et al.
Molecular Genetics and Metabolism, 2006
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