Congenital disorders of glycosylation with defective fucosylation.

Andreas Hüllen, Kristina Falkenstein, Corina Weigel, Hidde Huidekoper, Nora Naumann-Bartsch, Johannes Spenger (Co-author), René Feichtinger (Co-author), Jacqueline Schaefers, Stephanie Frenz, Daniel Kotlarz, Tooba Momen, Razieh Khoshnevisan, Korbinian M Riedhammer, René Santer, Theresia Herget, Alexander Rennings, Dirk J Lefeber, Johannes A. Mayr (Co-author), Christian Thiel, Saskia Wortmann (Last author)

Research output: Contribution to journalOriginal Articlepeer-review

14 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1441-1452
JournalJOURNAL OF INHERITED METABOLIC DISEASE
Volume44
Issue number6
DOIs
Publication statusPublished - 2021

Keywords

  • L-FUCOSE
  • SHORT STATURE
  • MUTATIONS
  • CDG
  • BIOSYNTHESIS
  • EXPRESSION
  • INSIGHTS
  • CLONING
  • POFUT1

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