Associated Papers
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre.
Sharma R et al.
Jimd Reports, 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
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
Keshavan N et al.
Jimd Reports, 2022
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.
Hertecant JL et al.
Saudi Medical Journal, 2009
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