Disease: Ornithine aminotransferase deficiency
- A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy
- A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
- A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities
- A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
- A novel c.980C>G variant in <em>OAT</em> results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female
- A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female
- A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy
- A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease
- A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
- Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females
- Alterations of hepatic gluconeogenesis and amino acid metabolism in CTRP3-deficient mice
- Analysis of optical coherence angiography in cystoid macular oedema associated with gyrate atrophy
- Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings
- Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <em>C1QTNF5</em> Missense Variant
- Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant
- Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency
- Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina
- Bilateral macular hole in gyrate atrophy: A rare association
- Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina
- Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina
- Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy
- Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?
- Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype
- Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
- CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation
- CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy
- Cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide
- Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease
- Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
- Dexamethasone implant for the treatment of gyrate atrophy associated macular edema
- Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant
- Effects of arginine replacement with L-citrulline on the arginine/nitric oxide metabolism in chickens: An animal model without urea cycle
- Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
- First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia
- First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia
- First reported case of pregnancy in a patient with ornithine aminotransferase deficiency
- Foveoschisis associated with gyrate atrophy in ornithine aminotransferase deficiency: A case report
- Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy
- Gyrate atrophy of the choroid and retina
- Gyrate Atrophy of the Choroid and Retina
- Gyrate Atrophy of the Choroid and Retina
- Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)
- Gyrate Atrophy of the Choroid and Retina: A Review
- Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment
- Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine
- Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy
- Inborn Errors of Metabolism: Gyrate Atrophy
- Letter to the editor regarding: "cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide"
- Liver-directed gene therapy for ornithine aminotransferase deficiency
- Macular neovascularisation in inherited retinal diseases: A review
- Metabolic Characterization and Consequences of Mitochondrial Pyruvate Carrier Deficiency in <em>Drosophila melanogaster</em>
- Metabolic Characterization and Consequences of Mitochondrial Pyruvate Carrier Deficiency in Drosophila melanogaster
- Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the <em>OAT</em> gene: a case report
- Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report
- Molecular and cellular basis of ornithine delta-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
- Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
- Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina
- Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy
- Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variability
- Non-vasogenic cystoid maculopathies
- Obscured interdigitation zone at the early stage of gyrate atrophy: A case report
- Optical Coherence Tomography Angiography and Macular Vessel Density Analysis of Cystoid Macular Edema in Gyrate Atrophy
- Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity
- Ornithine aminotransferase supports polyamine synthesis in pancreatic cancer
- Ornithine delta-aminotransferase is critical for floret development and seed setting through mediating nitrogen reutilization in rice
- Ornithine δ-aminotransferase is critical for floret development and seed setting through mediating nitrogen reutilization in rice
- Pachydermoperiostosis Masquerading as Acromegaly
- Pancreatic involvement in patients with inborn errors of metabolism
- Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl
- Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases
- Proline metabolism and biosynthesis behave differently in response to boron-deficiency and toxicity in Brassica napus
- R180T variant of delta-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features
- R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features
- Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation
- Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report
- Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy
- Retinal imaging in inherited retinal diseases
- Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders
- Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform
- Targeting the liver to treat the eye
- The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing
- The profiling of amino acids in crop milk and plasma and mRNA abundance of amino acid transporters and enzymes related to amino acid synthesis in the crop tissue of male and female pigeons during incubation and chick-rearing periods
- The Response of Broiler Chickens to Dietary Soybean Meal Reduction with Glycine and Cysteine Inclusion at Marginal Sulfur Amino Acids (SAA) Deficiency
- Three siblings with gyrate atrophy of the choroid and retina: a case report
- Treatment of Intraretinal Cystic Spaces Associated With Gyrate Atrophy of the Choroid and Retina With Intravitreal Bevacizumab
- Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate
- Ultrawide field imaging to document the progression of gyrate atrophy of the choroid and retina over 5 years
- Ultrawide-field OCT in Gyrate Atrophy
- Unilateral retinal neovascularization associated with recurrent vitreous hemorrhage in a patient with gyrate atrophy
- Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG)
- Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency
- Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in <em>OAT</em> gene
- Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
- View from inside-Gyrate atrophy: From defeat to action
- Vision on gyrate atrophy: why treat the eye?
- Vision on gyrate atrophy: why treat the liver?