Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B. Wortmann, Anne Jonge Poerink, Stephanie Grunewald, Ellen Crushell, Lihadh Al-Gazali, Maaike C. de Vries, Lars Mørkrid, Jozef Hertecant, Katja S. Brocke Holmefjord, David Kronn, Annette Feigenbaum, Ralph Fingerhut, Sunnie Y. Wong, Monique van Scherpenzeel, Nicol C. Voermans, Dirk J. Lefeber