Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM et al.
Journal of Inherited Metabolic Disease, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Palmer E et al.
Orphanet Journal of Rare Diseases, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.
Sen S et al.
Ophthalmic Genetics, 2021
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Cleary MA et al.
Journal of Inherited Metabolic Disease, 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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