Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Sunnie Yan Wai Wong, Therese Gadomski, Tamas Kozicz, Eva Morava, Lesa J. Beamer, Tomas Honzik, Miski Mohamed, Eva Morava, Saskia B. Wortmann, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, Amanda Ackermann, Charles A. Stanley, Daisy Rymen, Avraham Zeharia, Moeen Al-Sayed, Thomas MarquardtJaak Jaeken, Dirk Lefeber, Donald F. Conrad

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