title: Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.forename: H
authors.initials: H
authors.lastname: Henri
authors.forename: H
authors.initials: H
authors.lastname: Carchon
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
mesh_terms: D000595:Amino Acid Sequence; D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007410:Intestinal Diseases / Q000201:enzymology*; D008107:Liver Diseases / Q000201:enzymology*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency*; D008969:Molecular Sequence Data; D013577:Syndrome
chemical_list: D008359:Mannose-6-Phosphate Isomerase