Congenital disorder of glycosylation-Ic: case report and genetic defect.

@article{Hanefeld2000CongenitalDO,
  title={Congenital disorder of glycosylation-Ic: case report and genetic defect.},
  author={Folker A Hanefeld and Christian Koerner and U Holzbach-Eberle and Kurt von Figura},
  journal={Neuropediatrics},
  year={2000},
  volume={31 2},
  pages={60-2}
}
The clinical phenotype and the molecular defect of a patient with a new subtype of congenital disorders of glycosylation (CDG-Ic, formerly designated as CDGS type V) characterized by a deficiency of Dol-P-Glc: Man9GlcNAc2-PP-Dol glucosyltransferase is described. The clinical picture presents with several features similar to CDG-Ia (phosphomannomutase 2 deficiency) such as hypotonia and atactic-dystonic movements. In contrast to CDG-Ia, the course of the disease appears milder. The head growth… CONTINUE READING

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