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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: hoytema van konijnenburg emm. 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.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Among authors: hoytema van konijnenburg emm. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299 Free PMC article.
Clinical Reasoning: Pediatric Seizures of Unknown Cause.
Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: hoytema van konijnenburg emm. Neurology. 2022 Jun 14;98(24):1023-1028. doi: 10.1212/WNL.0000000000200711. Epub 2022 Apr 25. Neurology. 2022. PMID: 35470136
Follow-up protocol was useful for children whose parents attended emergency departments after partner violence, substance abuse or a suicide attempt.
Hoytema van Konijnenburg EMM, Gigengack M, Teeuw AH, Sieswerda-Hoogendoorn T, Brilleslijper-Kater SN, Flapper BC, Lindauer RJL, van Goudoever JB, van der Lee JH; aftERcare group. Hoytema van Konijnenburg EMM, et al. Acta Paediatr. 2018 Jan;107(1):110-120. doi: 10.1111/apa.14082. Epub 2017 Oct 11. Acta Paediatr. 2018. PMID: 28929523
Psychosocial problems of children whose parents visit the emergency department due to intimate partner violence, substance abuse or a suicide attempt.
Hoytema van Konijnenburg EMM, van der Lee JH, Teeuw AH, Lindeboom R, Brilleslijper-Kater SN, Sieswerda-Hoogendoorn T, van Goudoever JB, Lindauer RJL; aftERcare-group. Hoytema van Konijnenburg EMM, et al. Child Care Health Dev. 2017 May;43(3):369-384. doi: 10.1111/cch.12419. Epub 2016 Oct 23. Child Care Health Dev. 2017. PMID: 27774638
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