Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Abstract

The congenital disorders of glycosylation (CDGs) comprise a rapidly growing group of inherited multisystemic disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical feature of CDGs is the defective glycosylation of glycoproteins due to mutations in genes required for the biosynthesis of N-linked… (More)

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