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

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry