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Year Number of Results
2017 1
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31 results

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Page 1
Gyrate Atrophy of the Choroid and Retina: A Review.
Elnahry AG, Elnahry GA. Elnahry AG, et al. Eur J Ophthalmol. 2022 May;32(3):1314-1323. doi: 10.1177/11206721211067333. Epub 2021 Dec 13. Eur J Ophthalmol. 2022. PMID: 34894815 Review.
Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment.
Merino Diez MT, Soria Prada C, Zamorano Aleixandre M, Gonzalez-Lopez JJ. Merino Diez MT, et al. Arch Soc Esp Oftalmol (Engl Ed). 2024 Sep;99(9):392-399. doi: 10.1016/j.oftale.2024.04.009. Epub 2024 Apr 23. Arch Soc Esp Oftalmol (Engl Ed). 2024. PMID: 38663712 Review.
Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease characterised by elevated plasma ornithine levels due to deficiency of the enzyme ornithine aminotransferase (OAT). ...
Gyrate atrophy of the choroid and retina (GACR) is a rare autosomal recessive disease chara …
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Buijs MJN, Ten Asbroek ALMA, Bergen AAB, Boon CJF, Ferreira EA, Houtkooper RH, Wagenmakers MAEM, Wanders RJA, Waterham HR, Timmer C, van Karnebeek CD, Brands MM. Balfoort BM, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):96-116. doi: 10.1016/j.ymgme.2021.07.010. Epub 2021 Jul 26. Mol Genet Metab. 2021. PMID: 34340878 Free article. Review.
Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabolism caused by bi-allelic variations in OAT. ...
Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabo …
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. ...
Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic …
Gyrate atrophy of the choroid and retina.
Marques JP, Pereira P. Marques JP, et al. Postgrad Med J. 2022 Apr;98(1158):308. doi: 10.1136/postgradmedj-2021-139807. Epub 2021 Mar 9. Postgrad Med J. 2022. PMID: 33688066 No abstract available.
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs MJN, Balfoort BM, Brands MM, Ten Asbroek ALMA, Boon CJF, Diederen RMH, Timmer C, Wagenmakers MAEM, Waterham HR, Wanders RJA, Houtkooper RH, van Karnebeek CD, Bergen AA. Buijs MJN, et al. Acta Ophthalmol. 2025 Nov;103(7):e436-e455. doi: 10.1111/aos.17498. Epub 2025 Apr 7. Acta Ophthalmol. 2025. PMID: 40192087 Free PMC article. Review.
Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early-onset autosomal recessive disorder, caused by bi-allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperor …
Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early-onset autosom …
Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.
Puja A, Lu J, Du J. Puja A, et al. Adv Exp Med Biol. 2025;1468:279-284. doi: 10.1007/978-3-031-76550-6_46. Adv Exp Med Biol. 2025. PMID: 39930209 Free PMC article. Review.
Deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT) causes gyrate atrophy of the choroid and retina (GACR), a rare autosomal inherited disorder characterized by a substantial elevation in plasma ornithine and pr …
Deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT) causes gyrate atrophy of the choroid …
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 l …
In the April issue of this Journal, Boffa and coworkers put forward a new therapeutic approach for Gyrate Atrophy of …
Vision on gyrate atrophy: why treat the liver?
Boffa I, Brunetti-Pierri N. Boffa I, et al. EMBO Mol Med. 2024 Jan;16(1):8-9. doi: 10.1038/s44321-023-00002-0. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177527 Free PMC article.
Gyrate Atrophy of the Choroid and Retina (GACR) currently lacks any effective treatment and a highly restricted, yet cumbersome, low-arginine diet is the only available therapeutic option. ...Boffa argue that liver-directed gene th …
Gyrate Atrophy of the Choroid and Retina (GACR) currently lacks any effective treatment and …
31 results