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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: verhoeven duif n. 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.
Hurdles in treating Hurler disease: potential routes to achieve a "real" cure.
van den Broek BTA, van Doorn J, Hegeman CV, Nierkens S, Lindemans CA, Verhoeven-Duif N, Boelens JJ, van Hasselt PM. van den Broek BTA, et al. Blood Adv. 2020 Jun 23;4(12):2837-2849. doi: 10.1182/bloodadvances.2020001708. Blood Adv. 2020. PMID: 32574368 Free PMC article. Review.
Fatal cerebral edema associated with serine deficiency in CSF.
Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM. Keularts IM, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19. J Inherit Metab Dis. 2010. PMID: 20300853 Free PMC article.
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.
Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14. J Inherit Metab Dis. 2013. PMID: 23242558
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.
Matser YAH, Verly IRN, van der Ham M, de Sain-van der Velden MGM, Verhoeven-Duif NM, Ash S, Cangemi G, Barco S, Popovic MB, van Kuilenburg ABP, Tytgat GAM; SIOPEN Catecholamine Working Group. Matser YAH, et al. Among authors: verhoeven duif nm. Pediatr Blood Cancer. 2023 Jun;70(6):e30289. doi: 10.1002/pbc.30289. Epub 2023 Apr 3. Pediatr Blood Cancer. 2023. PMID: 37010353
98 results