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
A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus.
Olgac A et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2022
Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Dorum S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
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
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