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Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx

✍ Scribed by N.C. Nsibu; J. Jaeken; H. Carchon; M. Mampunza; L. Sturiale; D. Garozzo; M.N.L. Mashako; M.P. Tshibassu


Book ID
113590254
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
654 KB
Volume
12
Category
Article
ISSN
1090-3798

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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