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
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F et al.
Molecular Genetics and Metabolism Reports, 2015
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I et al.
Molecular Genetics and Metabolism, 2010
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S et al.
Human Mutation, 2009
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D et al.
Molecular Genetics and Metabolism, 0
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