Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 36

1.

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, Rockman-Greenberg C, Drousiotou A, Griggs RC.

JAMA Neurol. 2016 Jan 1;73(1):111-6. doi: 10.1001/jamaneurol.2015.3537.

PMID:
26594870
2.

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK.

PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015.

3.

Carnitine Deficiency and Pregnancy.

de Bruyn A, Jacquemyn Y, Kinget K, Eyskens F.

Case Rep Obstet Gynecol. 2015;2015:101468. doi: 10.1155/2015/101468. Epub 2015 May 28.

4.

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
5.

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
6.

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
7.

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
8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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
16.

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
17.

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.

18.

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
19.

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
20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk