Associated Papers
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD et al.
Molecular Genetics and Metabolism, 2023
PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.
Tao D et al.
Frontiers in Pediatrics, 2022
Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.
Breen C et al.
European Journal of Pediatrics, 2014
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