title: Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
authors.affiliation: Laboratoire de Biochimie A, Hôpital Bichat, AP-HP, 75877 Paris Cedex 18, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Barnier
authors.forename: Thierry
authors.initials: T
authors.lastname: Dupré
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Cuer
authors.forename: Sandrine
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: Geneviève
authors.initials: G
authors.lastname: Durand
authors.forename: Nathalie
authors.initials: N
authors.lastname: Seta
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008875:Middle Aged; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood* / Q000235:genetics; D012016:Reference Values
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase