Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic presentation. The most common clinical findings include liver invol...

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Bibliographic Details

Published in:	Therapeutic Advances in Rare Disease
Main Authors:	Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz, Matthew Schultz, Saadet Mercimek-Andrews, Suzanne Boyer, Eva Morava
Format:	Article
Language:	English
Published:	SAGE Publishing 2023-01-01
Online Access:	https://doi.org/10.1177/26330040221150269