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Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

✍ Scribed by Bradley S. Miller; Hudson H. Freeze; Georg F. Hoffmann; Kyriakie Sarafoglou


Book ID
116989291
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
119 KB
Volume
103
Category
Article
ISSN
1096-7192

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Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an Ξ±1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N -glycosylation pathway. CDG-Ic patients have moderate to severe psychomotor retarda

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## Abstract Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human __ALG6__ (h__ALG6__). This gene encodes the Ξ±1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor