Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 33

1.

Methylmalonic acidaemia in pregnancy.

Jacquemyn Y, Den Hartog M, Eyskens F.

BMJ Case Rep. 2014 Mar 31;2014. pii: bcr2014203723. doi: 10.1136/bcr-2014-203723.

PMID:
24686805
[PubMed - in process]
2.

Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report.

Luyckx E, Eyskens F, Simons A, Beckx K, Van West D, Dhar M.

Clin Neurol Neurosurg. 2014 Mar;118:9-11. doi: 10.1016/j.clineuro.2013.12.008. Epub 2013 Dec 29. No abstract available.

PMID:
24529221
[PubMed - in process]
3.

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P, Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, Lowry S, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E, Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A, Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):454-9. doi: 10.1016/j.ymgme.2013.10.003. Epub 2013 Oct 10.

PMID:
24206934
[PubMed - indexed for MEDLINE]
4.

Dietary management of urea cycle disorders: European practice.

Adam S, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12.

PMID:
24113687
[PubMed - indexed for MEDLINE]
5.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R.

Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.

PMID:
23462291
[PubMed - indexed for MEDLINE]
Free Article
6.

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.

De Brabander I, Yperzeele L, Ceuterick-De Groote C, Brouns R, Baker R, Belachew S, Delbecq J, De Keulenaer G, Dethy S, Eyskens F, Fumal A, Hemelsoet D, Hughes D, Jeangette S, Nuytten D, Redondo P, Sadzot B, Sindic C, Sheorajpanday R, Thijs V, Van Broeckhoven C, De Deyn PP.

Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4.

PMID:
23219219
[PubMed - indexed for MEDLINE]
7.

Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?

Vandevijvere S, Coucke W, Vanderpas J, Trumpff C, Fauvart M, Meulemans A, Marie S, Vincent MF, Schoos R, Boemer F, Vanwynsberghe T, Philips E, Eyskens F, Wuyts B, Selimaj V, Van Overmeire B, Kirkpatrick C, Van Oyen H, Moreno-Reyes R.

PLoS One. 2012;7(10):e47770. doi: 10.1371/journal.pone.0047770. Epub 2012 Oct 24.

PMID:
23112844
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.

Van den Bulcke T, Vanden Broucke P, Van Hoof V, Wouters K, Vanden Broucke S, Smits G, Smits E, Proesmans S, Van Genechten T, Eyskens F.

J Biomed Inform. 2011 Apr;44(2):319-25. doi: 10.1016/j.jbi.2010.12.001. Epub 2010 Dec 15.

PMID:
21167313
[PubMed - indexed for MEDLINE]
Free Article
9.

Fabry disease: a review of current management strategies.

Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP.

QJM. 2010 Sep;103(9):641-59. doi: 10.1093/qjmed/hcq117. Epub 2010 Jul 21. Review.

PMID:
20660166
[PubMed - indexed for MEDLINE]
Free Article
10.

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.

PMID:
20362666
[PubMed - indexed for MEDLINE]
Free Article
11.

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, Redondo P, Hemelsoet D, Fumal A, Jeangette S, Verslegers W, Baker R, Hughes D, De Deyn PP; BeFaS Investigators.

Stroke. 2010 May;41(5):863-8. doi: 10.1161/STROKEAHA.110.579409. Epub 2010 Apr 1.

PMID:
20360539
[PubMed - indexed for MEDLINE]
Free Article
12.

Rare inborn errors of metabolism in adults: the lysosomal storage disorders.

Eyskens F.

Acta Clin Belg. 2009 Nov-Dec;64(6):534-9. Review. No abstract available.

PMID:
20101878
[PubMed - indexed for MEDLINE]
13.

Cytomegalovirus DNA detection in Guthrie cards: role in the diagnostic work-up of childhood hearing loss.

Boudewyns A, Declau F, Smets K, Ursi D, Eyskens F, Van den Ende J, Van de Heyning P.

Otol Neurotol. 2009 Oct;30(7):943-9. doi: 10.1097/MAO.0b013e3181b76b22.

PMID:
19730140
[PubMed - indexed for MEDLINE]
14.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R.

BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4.

PMID:
19500334
[PubMed]
Free PMC Article
15.

Fabry disease in a patient with Turner syndrome.

Brouns R, Eyskens F, De Boeck K, Ceuterick-de Groote C, Van den Broeck M, Van Broeckhoven C, De Deyn PP.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S45-8. doi: 10.1007/s10545-009-1035-x. Epub 2009 Apr 5.

PMID:
19343533
[PubMed - indexed for MEDLINE]
16.

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR.

Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833.

PMID:
18712838
[PubMed - indexed for MEDLINE]
17.

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

Brouns R, Sheorajpanday R, Braxel E, Eyskens F, Baker R, Hughes D, Mehta A, Timmerman T, Vincent MF, De Deyn PP.

Clin Neurol Neurosurg. 2007 Jul;109(6):479-84. Epub 2007 May 16.

PMID:
17509753
[PubMed - indexed for MEDLINE]
18.

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.

van Bever Y, Balemans W, Duval EL, Jespers A, Eyskens F, van Hul W, Courtens W.

Am J Med Genet A. 2007 Apr 1;143(7):763-7. No abstract available.

PMID:
17343268
[PubMed - indexed for MEDLINE]
19.

Pregnancy and galactosaemia.

Noelmans L, Jacquemyn Y, De Naeyer S, Eyskens F.

J Obstet Gynaecol. 2006 Nov;26(8):812-4. No abstract available.

PMID:
17130042
[PubMed - indexed for MEDLINE]
20.

Cognitive functioning and psychiatric disorders in children with a metabolic disease.

Simons A, Eyskens F, De Groof A, Van Diest E, Deboutte D, Vermeiren R.

Eur Child Adolesc Psychiatry. 2006 Jun;15(4):207-13. Epub 2006 Mar 10.

PMID:
16532265
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk