Morava E - Search Results

1

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.

Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Binkhorst M, et al. Among authors: morava e. J Inherit Metab Dis. 2012 May;35(3):399-405. doi: 10.1007/s10545-011-9425-2. Epub 2011 Dec 2. J Inherit Metab Dis. 2012. PMID: 22134542 Free PMC article.

2

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.

Morava E, Kosztolányi G, Engelke UF, Wevers RA. Morava E, et al. Ann Clin Biochem. 2003 Jan;40(Pt 1):108-11. doi: 10.1258/000456303321016268. Ann Clin Biochem. 2003. PMID: 12542920

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

4

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: morava e. Clin Chem. 2004 Jan;50(1):58-66. doi: 10.1373/clinchem.2003.020214. Epub 2003 Nov 18. Clin Chem. 2004. PMID: 14633929

5

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

6

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

7

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: morava e. 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.

8

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. Among authors: morava e. Glycobiology. 2005 Dec;15(12):1312-9. doi: 10.1093/glycob/cwj017. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037491

9

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Morava E, et al. J Inherit Metab Dis. 2005;28(5):703-6. doi: 10.1007/s10545-005-0095-9. J Inherit Metab Dis. 2005. PMID: 16151901

10

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: morava e. 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.

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