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
Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy.
Pavuluri H et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Freua F et al.
Cold Spring Harbor Molecular Case Studies, 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
Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia.
Bakirtzis C et al.
Clinical Neurology and Neurosurgery, 2021
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
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
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