A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

Abstract

A boy with an unspecific symptomatology consisting of mental retardation, strabismus, hypotonia and mild ataxia was diagnosed with a congenital disorder of glycosylation (CDG). Neither cerebellar atrophy nor dysmorphic features were present. The serum transferrin band pattern obtained by isoelectric focusing(IEF) showed a strongly elevated… (More)

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@article{Assmann2001ANS, title={A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.}, author={Bianca Assmann and Roif Hackler and Vera Maria Peters and Juliane Sch{\"a}fer and Tanja Arndt and Ertan Mayatepek and Jacques Jaeken and G. F. Hoffmann}, journal={Neuropediatrics}, year={2001}, volume={32 6}, pages={313-8} }