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
β¦ LIBER β¦
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)
β 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
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Identification of a frequent variant in
β
Vibeke Westphal; Ming Xiao; Pui-Yan Kwok; Hudson H. Freeze
π
Article
π
2003
π
John Wiley and Sons
π
English
β 59 KB
Congenital disorder of glycosylation Ic
β
J.W Newell; N.-S Seo; G.M Enns; M McCraken; J.F Mantovani; H.H Freeze
π
Article
π
2003
π
Elsevier Science
π
English
β 536 KB
Skeletal dysplasia with brachytelephalan
β
JM Drijvers; DJ Lefeber; SA De Munnik; R Pfundt; N Van De Leeuw; C Marcelis; C T
π
Article
π
2010
π
John Wiley and Sons
π
English
β 539 KB
Clinical and molecular characterization
β
Liangwu Sun; Erik A. Eklund; Johan L.K. Van Hove; Hudson H. Freeze; Janet A. Tho
π
Article
π
2005
π
John Wiley and Sons
π
English
β 178 KB
π 1 views
## 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±1,3βglucosyltransferase that catalyzes transfer of the first glucose residue to the lipidβlinked oligosaccharide precursor
Analysis of Multiple Mutations in the hA
β
Vibeke Westphal; Celine SchottstΓ€dt; Thorsten Marquardt; Hudson H Freeze
π
Article
π
2000
π
Elsevier Science
π
English
β 63 KB
Skeletal Dysplasia and Myelopathy in Con
β
Steven M. Schade van Westrum; Paul J. Nederkoorn; P. Richard Schuurman; Tom Vuls
π
Article
π
2006
π
Elsevier Science
π
English
β 139 KB