Associated Papers
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG et al.
Human Mutation, 2019
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F et al.
Molecular Genetics and Metabolism Reports, 2015
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S et al.
Human Mutation, 2009
Select a paper to view details