Minnich, S. J.

SummaryA 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.