Associated Papers
PKCγ-mediated Phosphorylation of Mtss1 Regulates the Dendritic Outgrowth and Spine Development of Cerebellar Purkinje Cells.
Torrents-Solé P et al.
Molecular Neurobiology, 2025
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 Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Almomen M et al.
Neuropediatrics, 2018
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I et al.
Molecular Genetics and Metabolism, 2010
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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