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Page 1
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: broekman s. J Inherit Metab Dis. 2024 May;47(3):417-430. doi: 10.1002/jimd.12657. Epub 2023 Jul 29. J Inherit Metab Dis. 2024. PMID: 37455357
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. Among authors: broekman s. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.
Schellens RTW, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, Kremer H, De Vrieze E, Van Wijk E. Schellens RTW, et al. Among authors: broekman s. Mol Ther Nucleic Acids. 2023 May 20;32:980-994. doi: 10.1016/j.omtn.2023.05.020. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37313440 Free PMC article.
Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish.
Quint WH, Tadema KCD, de Vrieze E, Lukowicz RM, Broekman S, Winkelman BHJ, Hoevenaars M, de Gruiter HM, van Wijk E, Schaeffel F, Meester-Smoor M, Miller AC, Willemsen R, Klaver CCW, Iglesias AI. Quint WH, et al. Among authors: broekman s. Commun Biol. 2021 Jun 3;4(1):676. doi: 10.1038/s42003-021-02185-z. Commun Biol. 2021. PMID: 34083742 Free PMC article.
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M. Toms M, et al. Among authors: broekman s. Hum Mol Genet. 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. Hum Mol Genet. 2020. PMID: 31998945 Free PMC article.
28 results