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

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

10 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle MA, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C. Jaeken J, et al. Among authors: vleugels w. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S335-8. doi: 10.1007/s10545-009-1297-3. Epub 2009 Oct 24. J Inherit Metab Dis. 2009. PMID: 19856127
RFT1 deficiency in three novel CDG patients.
Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T. Vleugels W, et al. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
Screening for OST deficiencies in unsolved CDG-I patients.
Vleugels W, Schollen E, Foulquier F, Matthijs G. Vleugels W, et al. Biochem Biophys Res Commun. 2009 Dec 18;390(3):769-74. doi: 10.1016/j.bbrc.2009.10.047. Epub 2009 Oct 14. Biochem Biophys Res Commun. 2009. PMID: 19835842
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: vleugels w. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149