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Page 1
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: brands mm. 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: brands mm. 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.
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: brands mm. 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: brands mm. 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.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Müller AR, van Silfhout NY, den Hollander B, Kampman DHC, Bakkum L, Brands MMMG, Haverman L, Terwee CB, Schuengel C, Daams J, Hessl D, Wijburg FA, Boot E, van Eeghen AM. Müller AR, et al. Among authors: brands mmmg. Ther Adv Rare Dis. 2024 Apr 25;5:26330040241245721. doi: 10.1177/26330040241245721. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38681798 Free PMC article.
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].
Hollander BD, Rothuizen-Lindenschot M, Geertjens L, Vaz FM, Brands MM, Le HL, van Eeghen AM, van de Ven PM, Cornel MC, Jacobs BAW, Bruining H, van Karnebeek CD. Hollander BD, et al. Among authors: brands mm. Contemp Clin Trials Commun. 2024 Feb 1;38:101264. doi: 10.1016/j.conctc.2024.101264. eCollection 2024 Apr. Contemp Clin Trials Commun. 2024. PMID: 38533474 Free PMC article.
32 results