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Page 1
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: van karnebeek c. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD. den Hollander B, et al. Among authors: van karnebeek cd. J Inherit Metab Dis. 2025 Jan;48(1):e12835. doi: 10.1002/jimd.12835. J Inherit Metab Dis. 2025. PMID: 39777714 Free PMC article. Review.
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.
Syndromic Retinitis Pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: van karnebeek cdm. Prog Retin Eye Res. 2024 Dec 27:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
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 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.
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. Brands M, et al. Among authors: van karnebeek c. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. Mol Genet Metab. 2024. PMID: 39522365 Free article. Review. No abstract available.
Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.
van de Wal MAE, Doornbos C, Bibbe JM, Homberg JR, van Karnebeek C, Huynen MA, Keijer J, van Schothorst EM, 't Hoen PAC, Janssen MCH, Adjobo-Hermans MJW, Wieckowski MR, Koopman WJH. van de Wal MAE, et al. Among authors: van karnebeek c. Biochim Biophys Acta Proteins Proteom. 2025 Jan 1;1873(1):141055. doi: 10.1016/j.bbapap.2024.141055. Epub 2024 Oct 11. Biochim Biophys Acta Proteins Proteom. 2025. PMID: 39395749 Free article.
269 results