Associated Papers
Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.
Briso-Montiano Á et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2022
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Brasil S et al.
Clinical Genetics, 2015
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Molecular Genetics, 2013
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Mutation, 2010
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
Select a paper to view details