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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Journal of inherited metabolic disease - 1 Jan 2025

Balfoort Berith M, Van den Broeck Filip, Boon Camiel J F, Brouwers Martijn C G J, Diederen Roselie M H, Dhillon Preet, van Hasselt Peter M, Jaeger Bregje, Karuntu Jessica S, Rennings Alexander J M, van Spronsen Francjan J, Timmer Corrie, Wagenmakers Margreet A E M, De Zaeytijd Julie, Leroy Bart P, Schulze Andreas, van Karnebeek Clara D, Brands Marion M

Abstract excerpt

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is...

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Dietary Proteins

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PMID: 39761806
DOI: 10.1002/jimd.12842

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