𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant

✍ Scribed by Irina Mader; Marion Döbler-Neumann; Wilhelm Küker; Helena Stibler; Ingeborg Krägeloh-Mann


Publisher
Springer
Year
2001
Tongue
English
Weight
91 KB
Volume
18
Category
Article
ISSN
0256-7040

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Clinical features in adults with congeni
✍ 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

Functional analysis of three splicing mu
✍ Ana I. Vega; Celia Pérez-Cerdá; Lourdes R. Desviat; Gert Matthijs; Magdalena Uga 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

The congenital disorders of glycosylation (CDG) are a group of diseases caused by genetic defects affecting N-glycosylation. The most prevalent form of CDG-type Ia-is caused by defects in the PMM2 gene. This work reports the study of two new nucleotide changes (c.256-1G>C and c.640-9T>G) identified