Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
34395527 (PubMed )
Supplement: DataSheet1.PDF
Ornithine and its role in metabolic diseases: An appraisal.
Sivashanmugam M et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2017
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI et al.
Ophthalmology, 2012
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
Select a paper to view details