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

Year Number of Results
2002 5
2003 6
2004 2
2005 3
2006 3
2007 4
2008 2
2009 3
2010 4
2011 3
2012 4
2013 3
2014 6
2015 18
2016 15
2017 21
2018 14
2019 9
2020 23
2021 9
2022 12
2023 8
2024 4

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151 results

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Page 1
Disorders of fatty acid homeostasis.
Vaz FM, Ferdinandusse S, Salomons GS, Wanders RJA. Vaz FM, et al. Among authors: ferdinandusse s. J Inherit Metab Dis. 2024 May 1. doi: 10.1002/jimd.12734. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38693715 Review.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: ferdinandusse s. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Among authors: ferdinandusse s. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. Among authors: ferdinandusse s. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
Berner J, van de Wetering C, Jimenez Heredia R, Rashkova C, Ferdinandusse S, Koster J, Weiss JG, Frohne A, Giuliani S, Waterham HR, Castanon I, Brunner J, Boztug K. Berner J, et al. Among authors: ferdinandusse s. J Allergy Clin Immunol. 2023 Oct;152(4):1025-1031.e2. doi: 10.1016/j.jaci.2023.06.013. Epub 2023 Jun 25. J Allergy Clin Immunol. 2023. PMID: 37364720 Free PMC article.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. Among authors: ferdinandusse s. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 Free PMC article.
151 results