Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Federica Conte(Radboud University Nijmegen), Dirk J. Lefeber(Radboud University Nijmegen), Nicol C. Voermans(Radboud University Nijmegen), Saskia B. Wortmann(Paracelsus Medical University), Nurulamin Abu Bakar(Radboud University Nijmegen), Maaike C. de Vries(Radboud University Nijmegen), Ellen Crushell(Temple Street Children's University Hospital), Lars Mørkrid(Oslo University Hospital), Lihadh Al‐Gazali(United Arab Emirates University), Anne Jonge Poerink(Radboud University Nijmegen), Monique van Scherpenzeel(Radboud University Nijmegen), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Sunnie Wong(Tulane University), Katja S. Brocke Holmefjord(Stavanger University Hospital), Ralph Fingerhut(University Children's Hospital Zurich), Annette Feigenbaum(Hospital for Sick Children), David Kronn(New York Medical College), Jozef Hertecant(Tawam Hospital), Stephanie Grünewald(Great Ormond Street Hospital)
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