Lefeber DJ - Search Results

1

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study; Ng BG, Freeze HH, Lefeber DJ, Õunap K. Vals MA, et al. Among authors: lefeber dj. J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11. J Inherit Metab Dis. 2019. PMID: 30746764

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

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.

4

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

5

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

6

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

7

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

8

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Morava E, et al. Among authors: lefeber dj. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971833

9

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. Among authors: lefeber dj. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572

10

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RCA, Wevers RA, Morava E. Truin G, et al. Among authors: lefeber dj. Mol Genet Metab. 2008 Aug;94(4):481-484. doi: 10.1016/j.ymgme.2008.05.005. Epub 2008 Jun 20. Mol Genet Metab. 2008. PMID: 18571450

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