Associated Papers
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Vela-Amieva M et al.
Molecular Genetics and Metabolism Reports, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
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
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf
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
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2016
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.
Villegas-Ruiz V et al.
Clinical Biochemistry, 2015
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
Jain-Ghai S et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details