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

Year Number of Results
1998 1
2000 2
2001 2
2002 2
2003 1
2004 1
2005 1
2006 4
2007 7
2008 5
2009 9
2010 12
2011 13
2012 9
2013 11
2014 8
2015 15
2016 15
2017 17
2018 10
2019 15
2020 15
2021 15
2022 10
2023 16
2024 1

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195 results

Results by year

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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: lefeber dj. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Congenital Disorders of Glycosylation.
Lefeber DJ, Freeze HH, Steet R, Kinoshita T. Lefeber DJ, et al. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45. PMID: 35536942 Free Books & Documents. Review.
Omics Biomarkers in Ophthalmology.
Lauwen S, de Jong EK, Lefeber DJ, den Hollander Al. Lauwen S, et al. Among authors: lefeber dj. Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809. Invest Ophthalmol Vis Sci. 2017. PMID: 28525563 Review.
Clinical glycomics in the diagnostic laboratory.
Post MA, Lefeber DJ. Post MA, et al. Among authors: lefeber dj. Ann Transl Med. 2019 Sep;7(Suppl 6):S220. doi: 10.21037/atm.2019.08.74. Ann Transl Med. 2019. PMID: 31656799 Free PMC article. No abstract available.
Genetic defects in dolichol metabolism.
Buczkowska A, Swiezewska E, Lefeber DJ. Buczkowska A, et al. Among authors: lefeber dj. J Inherit Metab Dis. 2015 Jan;38(1):157-69. doi: 10.1007/s10545-014-9760-1. Epub 2014 Oct 1. J Inherit Metab Dis. 2015. PMID: 25270028 Free PMC article. Review.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: lefeber dj. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
Fluorinated rhamnosides inhibit cellular fucosylation.
Pijnenborg JFA, Rossing E, Merx J, Noga MJ, Titulaer WHC, Eerden N, Veizaj R, White PB, Lefeber DJ, Boltje TJ. Pijnenborg JFA, et al. Among authors: lefeber dj. Nat Commun. 2021 Dec 2;12(1):7024. doi: 10.1038/s41467-021-27355-9. Nat Commun. 2021. PMID: 34857733 Free PMC article.
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: lefeber dj. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.
195 results