Associated Papers
Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations.
Mhanni AA et al.
Jimd Reports, 2021
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
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA et al.
American Journal of Human Genetics, 1998
Lactic acidemia and mitochondrial disease.
Robinson BH
Molecular Genetics and Metabolism, 0
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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