## 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
✦ 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
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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