title: Disease severity and clinical outcome in phosphosglucomutase deficiency.
authors.affiliation: Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, 70112, USA, emoravakozicz@tulane.edu.
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
authors.forename: Sunnie
authors.initials: S
authors.lastname: Wong
authors.forename: Dirk
authors.initials: D
authors.lastname: Lefeber
mesh_terms: D000818:Animals; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D010733:Phosphoglucomutase / Q000235:genetics*
chemical_list: C488050:PGM1 protein, human; D010733:Phosphoglucomutase