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Year Number of Results
1992 2
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1994 1
1996 1
1997 1
1998 1
2003 3
2004 2
2005 1
2006 4
2007 2
2009 7
2010 4
2011 1
2012 2
2013 5
2014 2
2015 2
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2020 4
2021 4
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76 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.
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.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Metachromatic leukodystrophy: To screen or not to screen?
Jonckheere AI, Kingma SDK, Eyskens F, Bordon V, Jansen AC. Jonckheere AI, et al. Among authors: eyskens f. Eur J Paediatr Neurol. 2023 Sep;46:1-7. doi: 10.1016/j.ejpn.2023.06.005. Epub 2023 Jun 19. Eur J Paediatr Neurol. 2023. PMID: 37354699 Review.
Pregnancy and galactosaemia.
Noelmans L, Jacquemyn Y, De Naeyer S, Eyskens F. Noelmans L, et al. Among authors: eyskens f. J Obstet Gynaecol. 2006 Nov;26(8):812-4. doi: 10.1080/01443610600987001. J Obstet Gynaecol. 2006. PMID: 17130042 Free article. No abstract available.
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.
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.
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.
Holida M, Linhart A, Pisani A, Longo N, Eyskens F, Goker-Alpan O, Wallace E, Deegan P, Tøndel C, Feldt-Rasmussen U, Hughes D, Sakov A, Rocco R, Almon EB, Alon S, Chertkoff R, Warnock DG, Waldek S, Wilcox WR, Bernat JA. Holida M, et al. Among authors: eyskens f. J Inherit Metab Dis. 2025 Jan;48(1):e12795. doi: 10.1002/jimd.12795. Epub 2024 Oct 9. J Inherit Metab Dis. 2025. PMID: 39381863 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.
76 results