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PGM1-CDG: isoforms, phenotyping and gene therapy

EPISODE · May 12, 2023 · 17 MIN

PGM1-CDG: isoforms, phenotyping and gene therapy

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

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PGM1-CDG: isoforms, phenotyping and gene therapy

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