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

@article{Assmann2001ANS,
  title={A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.},
  author={Birgit E Assmann and Roif Hackler and Verena Peters and Juergen R Schaefer and Torsten Arndt and Ertan Mayatepek and Jaak Jaeken and Georg Friedrich Hoffmann},
  journal={Neuropediatrics},
  year={2001},
  volume={32 6},
  pages={313-8}
}
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 disialotransferrin band together with only slightly elevated asialotransferrin, thus a type I pattern. This is a new CDG classified CDG-x since CDG-la, -b… CONTINUE READING

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