ZARZA We are Zarza, the prestigious firm behind major projects in information technology.
Listen "PGM1-CDG with Professor Morava"
Episode Synopsis
Professor Eva Morava of the Mayo Clinic takes us through the recently published consensus statement on the diagnosis and management of PGM1-CDG. Professor Morava provides a concise background to Congenital Disorders of Glycosylation and PGM1 disease specifically, and she explains how to recognise and diagnose this rare but treatable condition.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up and management
Altassan et al
https://doi.org/10.1002/jimd.12286
Interested listeners may also want to read the consensus statement for PMM2-CDG published at the start of this year (https://doi.org/10.1002/jimd.12024).
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up and management
Altassan et al
https://doi.org/10.1002/jimd.12286
Interested listeners may also want to read the consensus statement for PMM2-CDG published at the start of this year (https://doi.org/10.1002/jimd.12024).
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
In God we trust