Wevers RA - 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. Among authors: wevers ra. 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

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome.

Vreken P, Rusch H, Huijben K, Wevers RA. Vreken P, et al. Among authors: wevers ra. J Inherit Metab Dis. 1998 Jun;21(4):447-8. doi: 10.1023/a:1005343716983. J Inherit Metab Dis. 1998. PMID: 9700614 No abstract available.

3

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

Grünewald S, Huyben K, de Jong JG, Smeitink JA, Rubio E, Boers GH, Conradt HS, Wendel U, Wevers RA. Grünewald S, et al. Among authors: wevers ra. Biochim Biophys Acta. 1999 Sep 20;1455(1):54-60. doi: 10.1016/s0925-4439(99)00078-2. Biochim Biophys Acta. 1999. PMID: 10524229 Free article.

4

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Among authors: wevers ra. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543

5

Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalities.

de Loos F, Huijben KM, van der Kar NC, Monnens LA, van den Heuvel LP, Groener JE, de Moor RA, Wevers RA. de Loos F, et al. Among authors: wevers ra. Clin Chem. 2002 May;48(5):781-4. Clin Chem. 2002. PMID: 11978611 No abstract available.

6

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. Among authors: wevers ra. Clin Chem. 2003 Nov;49(11):1839-45. doi: 10.1373/clinchem.2003.022541. Clin Chem. 2003. PMID: 14578315

7

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA. Engelke UF, et al. Among authors: wevers ra. Clin Chem. 2004 Jan;50(1):58-66. doi: 10.1373/clinchem.2003.020214. Epub 2003 Nov 18. Clin Chem. 2004. PMID: 14633929

8

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G. Schollen E, et al. Among authors: wevers ra. J Med Genet. 2004 Jul;41(7):550-6. doi: 10.1136/jmg.2003.016923. J Med Genet. 2004. PMID: 15235028 Free PMC article. No abstract available.

9

Screening for CDG type Ia in Joubert syndrome.

Morava E, Cser B, Kárteszi J, Huijben K, Szonyi L, Kosztolanyi G, Wevers R. Morava E, et al. Med Sci Monit. 2004 Aug;10(8):CR469-72. Epub 2004 Jul 23. Med Sci Monit. 2004. PMID: 15277997

10

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. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616

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