Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

Research output: Contribution to journalArticle


  • J. Jaeken
  • J. Artigas
  • R. Barone
  • A. Fiumara
  • T. J. De Koning
  • B. T. Poll-The
  • J. F. De Rijk-Van Andel
  • G. F. Hoffmann
  • B. Assmann
  • E. Mayatepek
  • M. Pineda
  • M. A. Vilaseca
  • J. M. Saudubray
  • B. Schlüter
  • R. Wevers
  • E. Van Schaftingen
External organisations
  • Catholic University of Leuven
  • University Hospitals Leuven
  • University of Catania
  • Wilhelmina Children’s Hospital
  • Ignatius Hospital
  • University Medical Center Schleswig-Holstein Campus Kiel
  • Heidelberg University
  • Necker-Enfants Malades Hospital
  • Radboud University Medical Center
  • Catholic University of Louvain
Original languageEnglish
Pages (from-to)447-449
Number of pages3
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - 1997 Sep 4
Publication categoryResearch
Externally publishedYes