Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

@article{Marquardt2003CongenitalDO,
  title={Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies},
  author={Thorsten Marquardt and Jonas Denecke},
  journal={European Journal of Pediatrics},
  year={2003},
  volume={162},
  pages={359-379}
}
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs… CONTINUE READING
Highly Influential
This paper has highly influenced a number of papers. REVIEW HIGHLY INFLUENTIAL CITATIONS