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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 2
2023 5
2024 1

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48 results

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Page 1
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.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: eyskens f. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
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.
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.
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.
48 results