𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

✍ Scribed by M. Casado, M. M. O’Callaghan, R. Montero, C. Pérez-Cerda, B. Pérez, P. Briones, E. Quintana, J. Muchart, A. Aracil, M. Pineda, R. Artuch


Book ID
113101474
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
343 KB
Volume
11
Category
Article
ISSN
1473-4222

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