Lefeber DJ - Search Results

1

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: lefeber dj. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713

2

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: lefeber dj. Glycobiology. 2005 Dec;15(12):1312-9. doi: 10.1093/glycob/cwj017. Epub 2005 Jul 21. Glycobiology. 2005. PMID: 16037491

3

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. 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.

4

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

5

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

6

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. Among authors: lefeber dj. 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.

7

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. Among authors: lefeber dj. Clin Chem. 2007 Feb;53(2):180-7. doi: 10.1373/clinchem.2006.073940. Epub 2006 Dec 14. Clin Chem. 2007. PMID: 17170056

8

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: lefeber dj. 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

9

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Adamowicz M, et al. Among authors: lefeber dj. J Inherit Metab Dis. 2007 Jun;30(3):407. doi: 10.1007/s10545-007-0569-z. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457694

10

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.

Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ. Vermeer S, et al. Among authors: lefeber dj. J Neurol. 2007 Oct;254(10):1356-8. doi: 10.1007/s00415-007-0546-3. Epub 2007 Aug 15. J Neurol. 2007. PMID: 17694350

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