Associated Papers
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs MJN et al.
Acta Ophthalmologica, 2025
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R et al.
Frontiers in Molecular Biosciences, 2021
R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features.
Montioli R et al.
The Febs Journal, 2019
Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.
Cui X et al.
Ophthalmic Genetics, 2018
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Osteoporosis associated with gyrate atrophy: a case report.
Ahmet I et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2006
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Ohkubo Y et al.
The Tohoku Journal of Experimental Medicine, 2005
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
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