Neurology

Researchers characterize congenital disorder of glycosylation

Published in Medical Letter on the CDC and FDA, February 2nd, 2003

According to a recent report from researchers in the United States, "To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment."

"Nine North American patients with CDG type I and different ethnic origins were studied," said Gregory M. Enns at Stanford University and colleagues throughout the United States. "All patients had transferrin isoelectric focusing studies with a type I sialotransferrin pattern. Molecular analysis showed the previously described R141 H, V231M, and T237M PMM2 mutations in four...

Want to see the full article?

Purchase this article for only $3.00

We're a pay-per-view site for premium content. If you'd like to purchase this article, it's only $3.00.

Welcome to NewsRx!

Learn more about a six-week, no-risk free trial of Medical Letter on the CDC and FDA

Source: Medical Letter on the CDC and FDA (2003-02-02)

NewsRx is Social

Top Medical Newsletters

Awards

Best Health/Healthcare Content, 2012
Best Health/Healthcare Content, 2011
Best e-Business Site, 2010
Best e-Business Site, 2009
Best e-Business Site, 2008
Best e-Business Site, 2007
Best e-Business Site, 2006
Best Healthcare Content, 2005
Best Overall Internet Site, 2005
Best Interactive Site, 2005

Facts & Stats

NewsRx also is available at LexisNexis, Gale, ProQuest, Factiva, Dialog, Thomson Reuters, NewsEdge, and Dow Jones.

Google 2010 PageRank: #2 Among Top Health News and Media Publications
Google 2010 PageRank: #2 Among Top Science Publications in Biology/Physiology
Google 2010 PageRank: #2 Among Top News and Media for the Business of Pharmaceuticals
Amazon's Alexa 2010 PageRank: #2 News and Media Site for the Pharmaceutical Industry