Guillard M - Search Results

1

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Guillard M, Morava E, van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ. Guillard M, et al. Clin Chem. 2011 Apr;57(4):593-602. doi: 10.1373/clinchem.2010.153635. Epub 2011 Jan 27. Clin Chem. 2011. PMID: 21273509

2

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry.

Guillard M, Gloerich J, Wessels HJ, Morava E, Wevers RA, Lefeber DJ. Guillard M, et al. Carbohydr Res. 2009 Aug 17;344(12):1550-7. doi: 10.1016/j.carres.2009.06.010. Epub 2009 Jun 16. Carbohydr Res. 2009. PMID: 19577739

3

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Guillard M, et al. J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431619 Free PMC article.

4

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. Guillard M, et al. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13. J Pediatr. 2011. PMID: 21920538 Free article.

5

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. Among authors: guillard m. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572

6

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, Lefeber DJ, Cruysberg JR. Morava E, et al. Among authors: guillard m. Br J Ophthalmol. 2009 Mar;93(3):350-4. doi: 10.1136/bjo.2008.145359. Epub 2008 Nov 19. Br J Ophthalmol. 2009. PMID: 19019927

7

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: guillard m. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.

8

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Guillard M, et al. Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Biochim Biophys Acta. 2009. PMID: 19171192 Free article. Review.

9

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RCA, Wevers RA, Morava E. Truin G, et al. Among authors: guillard m. Mol Genet Metab. 2008 Aug;94(4):481-484. doi: 10.1016/j.ymgme.2008.05.005. Epub 2008 Jun 20. Mol Genet Metab. 2008. PMID: 18571450

10

Autosomal recessive cutis laxa syndrome revisited.

Morava E, Guillard M, Lefeber DJ, Wevers RA. Morava E, et al. Among authors: guillard m. Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401719 Free PMC article. Review.

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