Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Emanuele G Coci
Vytautas Gapsys
Natasha Shur, George Washington University
Yoon Shin-Podskarbi
Bert L de Groot
Kathryn Miller
Jerry Vockley
Neal Sondheimer
Rebecca Ganetzky
Peter Freisinger

Abstract