𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

✍ Scribed by Jaak Jaeken

Publisher
Springer
Year
2011
Tongue
English
Weight
190 KB
Volume
34
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Transferrin D protein variants in the di
Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG)
✍ Eliška Marklová; Ziad Albahri 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB

## Abstract Congenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) pr

Clinical features in adults with congeni
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)
✍ Donna Krasnewich; Kevin O'Brien; Susan Sparks 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 1 views

## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of N‐linked oligosaccharides. CDG‐Ia is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of America

Mutations in PMM2 that cause congenital
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
✍ G. Matthijs; E. Schollen; C. Bjursell; A. Erlandson; H. Freeze; F. Imtiaz; S. Kj 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB 👁 1 views

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [