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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 1
2005 1
2006 2
2007 2
2009 3
2010 3
2011 1
2012 2
2013 3
2014 2
2015 2
2016 5
2017 4
2018 3
2019 6
2020 4
2021 3
2022 0
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Search Results

41 results
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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: eyskens f. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: eyskens f. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI.
Landen M, Eyskens F, Vanhoenacker F. Landen M, et al. Among authors: eyskens f. J Belg Soc Radiol. 2021 Sep 27;105(1):54. doi: 10.5334/jbsr.2611. eCollection 2021. J Belg Soc Radiol. 2021. PMID: 34693203 Free PMC article.
Dietary practices in methylmalonic acidaemia: a European survey.
Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Hansen KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, MacDonald A. Pinto A, et al. Among authors: eyskens f. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
Peroxisome mosaics.
Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: eyskens f. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.
Carnitine Deficiency and Pregnancy.
de Bruyn A, Jacquemyn Y, Kinget K, Eyskens F. de Bruyn A, et al. Among authors: eyskens f. Case Rep Obstet Gynecol. 2015;2015:101468. doi: 10.1155/2015/101468. Epub 2015 May 28. Case Rep Obstet Gynecol. 2015. PMID: 26113999 Free PMC article.
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
Vandevelde NM, Vermeersch P, Devreese KMJ, Vincent MF, Gulbis B, Eyskens F, Boemer F, Gothot A, Van Hoof VO, Bonroy C, Stepman H, Martens GA, Bossuyt X, Roosens L, Smet J, Laeremans H, Weets I, Minon JM, Vernelen K, Coucke W; Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases. Vandevelde NM, et al. Among authors: eyskens f. Orphanet J Rare Dis. 2021 Feb 17;16(1):89. doi: 10.1186/s13023-021-01728-1. Orphanet J Rare Dis. 2021. PMID: 33596965 Free PMC article.
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.
Muntau AC, Burlina A, Eyskens F, Freisinger P, Leuzzi V, Sivri HS, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Lane P, Alvarez I, Rutsch F. Muntau AC, et al. Among authors: eyskens f. Orphanet J Rare Dis. 2021 Aug 3;16(1):341. doi: 10.1186/s13023-021-01968-1. Orphanet J Rare Dis. 2021. PMID: 34344399 Free PMC article. Clinical Trial.
Methylmalonic acidaemia in pregnancy.
Jacquemyn Y, Den Hartog M, Eyskens F. Jacquemyn Y, et al. Among authors: eyskens f. BMJ Case Rep. 2014 Mar 31;2014:bcr2014203723. doi: 10.1136/bcr-2014-203723. BMJ Case Rep. 2014. PMID: 24686805 Free PMC article.
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.
van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM. van Erven B, et al. Among authors: eyskens f. JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20. JIMD Rep. 2017. PMID: 27995581 Free PMC article.
41 results