Wopereis S - Search Results

1

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. Wopereis S, et al. Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. doi: 10.1016/j.bbadis.2004.11.009. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15955459 Free article.

2

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR. Morava E, et al. Among authors: wopereis s. Eur J Ophthalmol. 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. Eur J Ophthalmol. 2006. PMID: 16496270

3

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

Wopereis S, Grünewald S, Morava E, Penzien JM, Briones P, García-Silva MT, Demacker PN, Huijben KM, Wevers RA. Wopereis S, et al. Clin Chem. 2003 Nov;49(11):1839-45. doi: 10.1373/clinchem.2003.022541. Clin Chem. 2003. PMID: 14578315

4

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Morava E, et al. Among authors: wopereis s. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616

5

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Wopereis S, Morava E, Grünewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA. Wopereis S, et al. Glycobiology. 2005 Dec;15(12):1312-9. doi: 10.1093/glycob/cwj017. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037491

6

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Wopereis S, Lefeber DJ, Morava E, Wevers RA. Wopereis S, et al. Clin Chem. 2006 Apr;52(4):574-600. doi: 10.1373/clinchem.2005.063040. Epub 2006 Feb 23. Clin Chem. 2006. PMID: 16497938 Review.

7

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Wopereis S, et al. Biochim Biophys Acta. 2006 Jun;1762(6):598-607. doi: 10.1016/j.bbadis.2006.03.009. Biochim Biophys Acta. 2006. PMID: 16769205 Free article.

8

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

Wopereis S, Grünewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA. Wopereis S, et al. Clin Chem. 2007 Feb;53(2):180-7. doi: 10.1373/clinchem.2006.073940. Epub 2006 Dec 14. Clin Chem. 2007. PMID: 17170056

9

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.

Albahri Z, Marklová E, Dedek P, Hojdíková H, Fiedler Z, Lefeber D, Wevers RA, Morava E, Wopereis S. Albahri Z, et al. Among authors: wopereis s. Eur J Pediatr. 2006 Mar;165(3):203-4. doi: 10.1007/s00431-005-0047-2. Epub 2006 Jan 14. Eur J Pediatr. 2006. PMID: 16416133 No abstract available.

10

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA. Morava E, et al. Among authors: wopereis s. Eur J Hum Genet. 2007 Jun;15(6):638-45. doi: 10.1038/sj.ejhg.5201813. Epub 2007 Mar 14. Eur J Hum Genet. 2007. PMID: 17356545

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

85 results

Search Page

Filters