Associated Papers
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
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A et al.
Biochimica Et Biophysica Acta, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Mutation, 2010
Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.
Richard E et al.
The Journal of Pathology, 2007
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