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MAN1B1 deficiency: an unexpected CDG-II.
Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. Rymen D, et al. Among authors: matthijs g. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348268 Free PMC article.
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