Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.

Abstract excerpt

The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs and symptoms as well as a large number of disorders. Isoelectric focusing of transferrin has been used as a screening method but has limitations. Individual enzyme or molecular genetic tests have been difficult to perform. In this study, we aimed to describe...

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• Abnormalities, Multiple
• Child, Preschool
• Congenital Disorders of Glycosylation
• Genetic Markers
• Glycosylation