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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

  • Eva Morava*
  • , Vera Tiemes
  • , Christian Tiel
  • , Nathalie Seta
  • , Pascale de Lonlay
  • , Hans de Klerk
  • , Margot Mulder
  • , Estela Rubio-Gozalbo
  • , Gepke Visser
  • , Peter van Hasselt
  • , Dafne D G Horovitz
  • , Carolina Fischinger Moura de Souza
  • , Ida V D Schwartz
  • , Andrew Green
  • , Mohammed Al-Owain
  • , Graciella Uziel
  • , Sabine Sigaudy
  • , Brigitte Chabrol
  • , Franc Jan van Spronsen
  • , Martin Steinert
    • Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers
*Corresponding author for this work

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

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Biochemistry, Genetics and Molecular Biology