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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. Among authors: wagenmakers maem. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM; GACR Bird's Eye View Consortium; Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S. Balfoort BM, et al. Among authors: wagenmakers maem. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108542. doi: 10.1016/j.ymgme.2024.108542. Epub 2024 Jul 19. Mol Genet Metab. 2024. PMID: 39053126 Free 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. Among authors: wagenmakers maem. 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.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: wagenmakers maem. J Inherit Metab Dis. 2024 Nov;47(6):1239-1259. doi: 10.1002/jimd.12695. Epub 2023 Dec 9. J Inherit Metab Dis. 2024. PMID: 38069502 Review.
49 results