caa a22 4500 467932654 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0210-6 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0210-6 Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia [Elektronische Daten] [S. Hahn, S. Minnich, J. O'Brien] Summary: 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. SSIEM and Springer, 2006 Hahn S. Departments of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA aut Minnich S. Departments of Laboratory Medicine and Pathology, USA aut O'Brien J. Departments of Laboratory Medicine and Pathology, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 235-237 0141-8955 29:1<235 2006 29 10545 https://doi.org/10.1007/s10545-006-0210-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0210-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hahn S. Departments of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA aut NATIONALLICENCE 700 1- Minnich S. Departments of Laboratory Medicine and Pathology, USA aut NATIONALLICENCE 700 1- O'Brien J. Departments of Laboratory Medicine and Pathology, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 235-237 0141-8955 29:1<235 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer