Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia
- 1 February 2006
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 29 (1), 235-237
- https://doi.org/10.1007/s10545-006-0210-6
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.Keywords
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