Morava E - Search Results

1

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

2

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

3

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

4

Tall stature and progressive overweight in mitochondrial encephalopathy.

Morava E, Hol FA, Janssen A, Smeitink J. Morava E, et al. J Inherit Metab Dis. 2003;26(7):720-2. doi: 10.1023/b:boli.0000005647.71704.25. J Inherit Metab Dis. 2003. PMID: 14707524

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

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. Eur J Ophthalmol. 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. Eur J Ophthalmol. 2006. PMID: 16496270

10

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. Among authors: morava e. Clin Chem. 2006 Apr;52(4):574-600. doi: 10.1373/clinchem.2005.063040. Epub 2006 Feb 23. Clin Chem. 2006. PMID: 16497938 Review.

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