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
MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS, Olgac A, Kilic M, Keldermans L, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: matthijs g. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1207-1209. doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162022
Congenital disorders of glycosylation: a review.
Grunewald S, Matthijs G, Jaeken J. Grunewald S, et al. Among authors: matthijs g. Pediatr Res. 2002 Nov;52(5):618-24. doi: 10.1203/00006450-200211000-00003. Pediatr Res. 2002. PMID: 12409504 Review.
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM. Butler M, et al. Among authors: matthijs g. Glycobiology. 2003 Sep;13(9):601-22. doi: 10.1093/glycob/cwg079. Epub 2003 May 28. Glycobiology. 2003. PMID: 12773475
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G. Foulquier F, et al. Among authors: matthijs g. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537452 Free PMC article.
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G. Schollen E, et al. Among authors: matthijs g. Mol Genet Metab. 2007 Apr;90(4):408-13. doi: 10.1016/j.ymgme.2007.01.003. Epub 2007 Feb 16. Mol Genet Metab. 2007. PMID: 17307006
350 results