title: Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
authors.affiliation: Laboratoire de Biochimie A, Hôpital Bichat, 75877 Paris Cédex 18, France.
authors.forename: T
authors.initials: T
authors.lastname: Dupre
authors.forename: M
authors.initials: M
authors.lastname: Cuer
authors.forename: S
authors.initials: S
authors.lastname: Barrot
authors.forename: A
authors.initials: A
authors.lastname: Barnier
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D005260:Female; D006023:Glycoproteins / Q000097:blood*; D006801:Humans; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood / Q000172:deficiency*
chemical_list: D006023:Glycoproteins; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase