✦ LIBER ✦

Congenital disorder of glycosylation type Ic: Report of a Japanese case

✍ Scribed by Ichikawa, Kazushi; Kadoya, Machiko; Wada, Yoshinao; Okamoto, Nobuhiko

Book ID: 123552791
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 415 KB
Volume: 35
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2012.09.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pubertal development in ALG6 deficiency

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

✍ Bradley S. Miller; Hudson H. Freeze; Georg F. Hoffmann; Kyriakie Sarafoglou 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 119 KB

Multi-allelic origin of congenital disor

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

✍ Timo Imbach; Stephanie Grünewald; Barbara Schenk; Patricie Burda; Els Schollen; 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 284 KB

Congenital disorder of glycosylation Ic

Congenital disorder of glycosylation Ic in patients of Indian origin

✍ J.W Newell; N.-S Seo; G.M Enns; M McCraken; J.F Mantovani; H.H Freeze 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 536 KB

Clinical and molecular characterization

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

✍ Liangwu Sun; Erik A. Eklund; Johan L.K. Van Hove; Hudson H. Freeze; Janet A. Tho 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 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 α1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor

The first case of congenital disorders o

The first case of congenital disorders of glycosylation type Ia in Russia

✍ S. Mikhaylova; E. Zakharova; P. Tsygankova; E. Ilina; A. Petrukhin 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 46 KB

Congenital disorder of glycosylation (CD

Congenital disorder of glycosylation (CDG) type Ie. A new patient

✍ M. T. García-Silva; G. Matthijs; E. Schollen; J. C. Cabrera; J. Sanchez del Pozo 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 264 KB