## 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
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
β Scribed by Mailys Guillard; Yoshinao Wada; Hana Hansikova; Isao Yuasa; Katerina Vesela; Nina Ondruskova; Machiko Kadoya; Alice Janssen; Lambertus P. W. J. Van den Heuvel; Eva Morava; Jiri Zeman; Ron A. Wevers; Dirk J. Lefeber
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 272 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0141-8955
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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
A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression le