✦ LIBER ✦

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

✍ Scribed by M. T. García-Silva; G. Matthijs; E. Schollen; J. C. Cabrera; J. Sanchez del Pozo; M. Martí Herreros; R. Simón; M. Maties; E. Martín Hernández; T. Hennet; P. Briones

Book ID: 111574779
Publisher: Springer
Year: 2004
Tongue: English
Weight: 264 KB
Volume: 27
Category: Article
ISSN: 0141-8955
DOI: 10.1023/b:boli.0000042984.42433.d8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Congenital disorder of glycosylation typ

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

✍ A. Rimella-Le-Huu; H. Henry; I. Kern; S. Hanquinet; E. Roulet-Perez; C. J. Newma 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 274 KB

Congenital disorders of glycosylation (C

Congenital disorders of glycosylation (CDG): Update and new developments

✍ J. Jaeken 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 50 KB

Hair changes in congenital disorders of

Hair changes in congenital disorders of glycosylation (CDG type 1)

✍ Margherita Silengo,Mariella Valenzise… 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 132 KB

P324 Unsolved congenital disorders of gl

P324 Unsolved congenital disorders of glycosylation type I (CDG-Ix)

✍ E. Jamroz; J. Paprocka; M. Adamowicz; R. Wevers 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 43 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

Clinical and Biochemical Characterizatio

Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx

✍ Yoshiaki Miura; Stacey K.H. Tay; Marion M. Aw; Erik A. Eklund; Hudson H. Freeze 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 157 KB