Associated Papers
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
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
First reported case of pregnancy in a patient with ornithine aminotransferase deficiency.
Kanninen T et al.
Nutrition (burbank, Los Angeles County, Calif.), 2022
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.
Santinelli R et al.
Journal of Inherited Metabolic Disease, 2004
Crystal structure of human recombinant ornithine aminotransferase.
Shen BW et al.
Journal of Molecular Biology, 1998
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
Molaei Ramshe S et al.
Journal of Ophthalmic & Vision Research, 0
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