PGM1-CDG: isoforms, phenotyping and gene therapy
Release Date:
Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy.
The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation?
Silvia Radenkovic, et al
https://doi.org/10.1002/jimd.12601
Interested listeners may want to read gene therapy paper discussed herein:
https://doi.org/10.1016/j.trsl.2023.01.004
PGM1-CDG: isoforms, phenotyping and gene therapy