[Congenital disorders of glycosylation].

Mirosława, Ferens-Sieczkowska

Found an issue? Give us feedback

Postępy Higieny i Me...arrow_drop_down

Postępy Higieny i Medycyny Doświadczalnej

Article . 2004

Data sources: Europe PubMed Central

[Congenital disorders of glycosylation].

descriptionPublicationkeyboard_double_arrow_right Article 07 Apr 2004 Polish Journal:Postepy higieny i medycyny doswiadczalnej, volume 57 (issn: 0032-5449,

Copyright policy )

Authors: Mirosława, Ferens-Sieczkowska;

pmid: 14601252

[Congenital disorders of glycosylation].

- Summary
- Subjects
- Metrics

Abstract

Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites. Four defects were found in N-glycan processing. Molecular background of CDG and potential perspectives of therapy are summarised and updated in this review.

Keywords

Congenital Disorders of Glycosylation, Glycosylation, Polysaccharides, Humans

Impact byBIP!

	selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	0
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Average
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Average
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Average