Matthijs G - Search Results

1

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Among authors: matthijs g. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076

2

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.

3

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. Enns GM, et al. Among authors: matthijs g. J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658. J Pediatr. 2002. PMID: 12410200

4

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.

Callewaert N, Schollen E, Vanhecke A, Jaeken J, Matthijs G, Contreras R. Callewaert N, et al. Among authors: matthijs g. Glycobiology. 2003 May;13(5):367-75. doi: 10.1093/glycob/cwg040. Epub 2003 Jan 22. Glycobiology. 2003. PMID: 12626389

5

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Jaeken J, et al. Among authors: matthijs g. Am J Hum Genet. 2006 Jan;78(1):38-51. doi: 10.1086/498852. Epub 2005 Nov 23. Am J Hum Genet. 2006. PMID: 16385448 Free PMC article.

6

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.

7

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.

Thiel C, Lübke T, Matthijs G, von Figura K, Körner C. Thiel C, et al. Among authors: matthijs g. Mol Cell Biol. 2006 Aug;26(15):5615-20. doi: 10.1128/MCB.02391-05. Mol Cell Biol. 2006. PMID: 16847317 Free PMC article.

8

PREPL: a putative novel oligopeptidase propelled into the limelight.

Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: matthijs g. Biol Chem. 2006 Jul;387(7):879-83. doi: 10.1515/BC.2006.111. Biol Chem. 2006. PMID: 16913837 Review.

9

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, García-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G. Foulquier F, et al. Among authors: matthijs g. Hum Mol Genet. 2007 Apr 1;16(7):717-30. doi: 10.1093/hmg/ddl476. Epub 2007 Jan 12. Hum Mol Genet. 2007. PMID: 17220172

10

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

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