Associated Papers
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Cameron JM et al.
Genetics in Medicine Open, 2024
Current status of surviving patients with arginase 1 deficiency in Japan.
Kido J et al.
Molecular Genetics and Metabolism Reports, 2021
Novel ARG1 variants identified in a patient with arginase 1 deficiency.
Yokoi K et al.
Human Genome Variation, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.
Diez-Fernandez C et al.
Human Mutation, 2018
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.
Lee PC et al.
Molecular Therapy. Nucleic Acids, 2016
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Carvalho DR et al.
Gene, 2012
Molecular basis of phenotypic variation in patients with argininemia.
Uchino T et al.
Human Genetics, 1995
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
Uchino T et al.
American Journal of Human Genetics, 1992
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