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

350 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L, van Hasselt PM, Foulquier F, Cuppen I, Prinsen H, Jansen K, Keldermans L, De Meirleir L, Matthijs G, Jaeken J. Regal L, et al. Among authors: matthijs g. Mol Genet Metab Rep. 2014 Nov 25;2:16-19. doi: 10.1016/j.ymgmr.2014.11.006. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649519 Free PMC article.
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Jaeken J, Matthijs G, Barone R, Carchon H. Jaeken J, et al. Among authors: matthijs g. J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73. J Med Genet. 1997. PMID: 9032653 Free PMC article. No abstract available.
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: matthijs g. 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
Congenital disorders of glycosylation.
Jaeken J, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Annu Rev Genomics Hum Genet. 2001;2:129-51. doi: 10.1146/annurev.genom.2.1.129. Annu Rev Genomics Hum Genet. 2001. PMID: 11701646 Review.
On the nomenclature of congenital disorders of glycosylation (CDG).
Jaeken J, Hennet T, Freeze HH, Matthijs G. Jaeken J, et al. Among authors: matthijs g. J Inherit Metab Dis. 2008 Dec;31(6):669-72. doi: 10.1007/s10545-008-0983-x. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949576 Free article.
SRD5A3-CDG: a patient with a novel mutation.
Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: matthijs g. Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. doi: 10.1016/j.ejpn.2011.12.011. Epub 2012 Jan 10. Eur J Paediatr Neurol. 2012. PMID: 22240719
350 results