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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

✍ Scribed by Jaeken, J.; Vleugels, W.; Régal, L.; Corchia, C.; Goemans, N.; Haeuptle, M. A.; Foulquier, F.; Hennet, T.; Matthijs, G.; Dionisi-Vici, C.

Book ID
120516345
Publisher
Springer
Year
2009
Tongue
English
Weight
99 KB
Volume
32
Category
Article
ISSN
0141-8955

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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of N‐linked oligosaccharides. CDG‐Ia is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of America