Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2011 Aug;34(4):853-8.
doi: 10.1007/s10545-011-9299-3. Epub 2011 Mar 8.

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Jaak Jaeken  1
Affiliations
Review

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Jaak Jaeken. J Inherit Metab Dis. 2011 Aug.

Abstract

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.

PubMed Disclaimer

References

    1. Nat Med. 2004 May;10(5):518-23 - PubMed
    1. Hum Mutat. 2009 Sep;30(9):1292-8 - PubMed
    1. Eur J Hum Genet. 2005 Apr;13(4):414-21 - PubMed
    1. Biochim Biophys Acta. 2009 Sep;1792(9):874-80 - PubMed
    1. Eur J Hum Genet. 2009 Jan;17(1):125-8 - PubMed

MeSH terms

LinkOut - more resources