Lefeber D - Search Results

1

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: lefeber d. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.

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

3

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

4

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

5

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. 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.

6

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

7

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

8

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

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. 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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