Transferrin D Protein Variants in the Diagnosis of Congenital Disorders of Glycosylation (CDG)

Abstrakt

This paper discusses an analytical problem in the differentiation between congenital disorders of glycosylation (CDG; transferrin as a marker of hypoglycosylation) and transferrin protein variants, namely the type D.

Klíčová slova

• inherited metabolic disorders
• isoelectric focusing
• hypoglycosylation
• protein variant