title: Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
abstract: A follow-up over 7 years on a patient with congenital disorder of glycosylation type Ia showed a significant normalization of hypoglycosylated transferrin. Isoelectric focusing for serum transferrin is a widely used screening method but there could be a limit of detection and the subtle changes can be also overlooked. Re-test with a different method is desirable, especially when the clinical suspicion for congenital disorder of glycosylation is high.
authors.affiliation: Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. hahn.sihoun@mayo.edu
authors.forename: S H
authors.initials: SH
authors.lastname: Hahn
authors.forename: S J
authors.initials: SJ
authors.lastname: Minnich
authors.forename: J F
authors.initials: JF
authors.lastname: O'Brien
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D002241:Carbohydrates / Q000737:chemistry; D002675:Child, Preschool; D002853:Chromatography, Liquid; D003937:Diagnosis, Differential; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D013058:Mass Spectrometry; D020033:Protein Isoforms; D015203:Reproducibility of Results; D014168:Transferrin / Q000096:biosynthesis
chemical_list: D002241:Carbohydrates; D020033:Protein Isoforms; D014168:Transferrin