title: Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
authors.affiliation: Department of Pediatrics, University of Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: J
authors.initials: J
authors.lastname: Artigas
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: T J
authors.initials: TJ
authors.lastname: de Koning
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J F
authors.initials: JF
authors.lastname: de Rijk-van Andel
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: B
authors.initials: B
authors.lastname: Assmann
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: B
authors.initials: B
authors.lastname: Schlüter
authors.forename: R
authors.initials: R
authors.lastname: Wevers
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007525:Isoelectric Focusing; D007962:Leukocytes / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase