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Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
In the April issue of this Journal, Boffa and coworkers put forward a new therapeutic approach for Gyrate Atrophy of the Choroid and Retina (GACR; OMIM 258870) (Boffa et al, 2023). The authors propose to apply gene therapy to the liver for GACR, a meta …
In the April issue of this Journal, Boffa and coworkers put forward a new therapeutic approach for Gyrate Atrophy of the Choro …
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. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. ...In this study, we analyzed 27 patients with GACR. The median age at i …
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by p …
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. 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.
Gyrate atrophy of the choroid and retina (GACR) is caused by pathogenic biallelic variants in the gene encoding ornithine-delta-aminotransferase (OAT), and is characterized by progressive vision loss leading to blindness. ...In this study, we aimed to extend …
Gyrate atrophy of the choroid and retina (GACR) is caused by pathogenic biallelic variants in the gene encoding ornithi …
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. 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.