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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B, Rasing A, Post MA, Klein WM, Oud MM, Brands MM, de Boer L, Engelke UFH, van Essen P, Fuchs SA, Haaxma CA, Jensson BO, Kluijtmans LAJ, Lengyel A, Lichtenbelt KD, Østergaard E, Peters G, Salvarinova R, Simon MEH, Stefansson K, Thorarensen Ó, Ulmen U, Coene KLM, Willemsen MA, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Among authors: van essen p. Front Neurol. 2021 Jun 7;12:668640. doi: 10.3389/fneur.2021.668640. eCollection 2021. Front Neurol. 2021. PMID: 34163424 Free PMC article.
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
den Hollander B, Veenvliet ARJ, Rothuizen-Lindenschot M, van Essen P, Peters G, Santos-Gómez A, Olivella M, Altafaj X, Brands MM, Jacobs BAW, van Karnebeek CD. den Hollander B, et al. Among authors: van essen p. Mol Genet Metab. 2023 Mar;138(3):107523. doi: 10.1016/j.ymgme.2023.107523. Epub 2023 Jan 21. Mol Genet Metab. 2023. PMID: 36758276 Free article.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
den Hollander B, Brands MM, Nijhuis IJM, Doude van Troostwijk LJAE, van Essen P, Hofsteenge GH, Koot BG, Müller AR, Tseng LA, Stroes ESG, van de Ven PM, Wiegman A, van Karnebeek CDM. den Hollander B, et al. Among authors: van essen p. Mol Genet Metab. 2024 May;142(1):108347. doi: 10.1016/j.ymgme.2024.108347. Epub 2024 Feb 13. Mol Genet Metab. 2024. PMID: 38401382
30 results