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Page 1
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.
Edridge A, Namazzi R, Tebulo A, Mfizi A, Deijs M, Koekkoek S, de Wever B, van der Ende A, Umiwana J, de Jong MD, Jans J, Verhoeven-Duif N, Titulaer M, van Karnebeek C, Seydel K, Taylor T, Asiimwe-Kateera B, van der Hoek L, Kabayiza JC, Mallewa M, Idro R, Boele van Hensbroek M, van Woensel JBM. Edridge A, et al. Among authors: van karnebeek c, van der ende a, van der hoek l, van woensel jbm. J Pediatr. 2023 Jul;258:113360. doi: 10.1016/j.jpeds.2023.02.007. Epub 2023 Feb 23. J Pediatr. 2023. PMID: 36828342 Free article.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Broeks MH, Meijer NWF, Westland D, Bosma M, Gerrits J, German HM, Ciapaite J, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Broeks MH, et al. Cell Rep. 2023 Sep 26;42(9):113043. doi: 10.1016/j.celrep.2023.113043. Epub 2023 Aug 30. Cell Rep. 2023. PMID: 37647199 Free article.
Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Hieltjes IJ, van der Lee JH, Groenendijk MC, van Haaften G, van Hasselt PM, Lunsing RJ, van Prooijen GJJ, de Ruiter EM, van Spronsen FJ, Verhoeven-Duif NM, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham HR, van Karnebeek CD, Wanders RJA, Wevers RA. Hieltjes IJ, et al. Among authors: van karnebeek cd. JIMD Rep. 2024 Dec 22;66(1):e12455. doi: 10.1002/jmd2.12455. eCollection 2025 Jan. JIMD Rep. 2024. PMID: 39723120 Free PMC article.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Van Den Broeck F, Brands MM, van Karnebeek CD, Bergen AA, van den Born LI, Houtkooper RH, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Boon CJF, Diederen RMH. Balfoort BM, et al. Graefes Arch Clin Exp Ophthalmol. 2024 Nov;262(11):3589-3596. doi: 10.1007/s00417-024-06540-8. Epub 2024 Jun 7. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38847892 Free PMC article.
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: van karnebeek cd. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
A Dutch translational knowledge agenda for inherited metabolic diseases.
Waterham HR, Wanders RJA, Wevers RA, van Karnebeek CD. Waterham HR, et al. Among authors: van karnebeek cd. J Inherit Metab Dis. 2025 Jan;48(1):e12812. doi: 10.1002/jimd.12812. Epub 2024 Nov 16. J Inherit Metab Dis. 2025. PMID: 39548774 No abstract available.
269 results