title: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, B-3000, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: L
authors.initials: L
authors.lastname: Heykants
authors.forename: S
authors.initials: S
authors.lastname: Grünewald
mesh_terms: D001483:Base Sequence; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase