Disease: Hyperornithinemia
- A child with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome treated with liver transplantation
- A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
- A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
- A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing
- 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
- Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
- Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings
- 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
- Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the <em>SLC25A15</em> gene
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
- Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
- CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy
- Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
- Foveoschisis associated with gyrate atrophy in ornithine aminotransferase deficiency: A case report
- 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: Update on diagnosis and treatment
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A neonate receiving liver transplantation
- Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings
- Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy
- Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report
- Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report
- Liver-directed gene therapy for ornithine aminotransferase deficiency
- Macular neovascularisation in inherited retinal diseases: A review
- Non-vasogenic cystoid maculopathies
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases
- Postoperative hyperammonemic encephalopathy due to unexpected constipation in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report
- Three siblings with gyrate atrophy of the choroid and retina: a case report
- Ultrawide-field OCT in Gyrate Atrophy
- Unilateral retinal neovascularization associated with recurrent vitreous hemorrhage in a patient with gyrate atrophy
- 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?