Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.

@article{Freeze2007CongenitalDO,
  title={Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.},
  author={Hudson H. Freeze},
  journal={Current molecular medicine},
  year={2007},
  volume={7 4},
  pages={389-96}
}
The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the specific defect. An abnormal trasferrin glycosylation pattern suggests that the defect is in either genes that synthesize and add the precursor glycan… CONTINUE READING

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