Publication
International consensus guidelines for phosphoglucomutase 1 deficiency (
PGM1‐CDG
): Diagnosis, follow‐up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Cechova, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa Ferreira, Carlos Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Stephanie Grunewald, Tomas Honzik, Jaak Jaeken, Donna Krasnewich, Christina Lam, Joy Lee, Dirk Lefeber, Dorinda Marques‐da‐Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo M. Raymond, Daisy Rymen, Malgorzata Seroczynska, Mercedes Serrano, Jolanta Sykut‐Cegielska, Christian Thiel, Frederic Tort, Mari‐Anne Vals, Paula Videira, Nicol Voermans, Peter Witters, Eva Morava
Journal of Inherited Metabolic Disease, September 2020, Wiley
DOI: 10.1002/jimd.12286