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
39669610 (PubMed )
Supplement: mmc1.xlsx › ARG1_pub_variants__Model_A__
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
Keshavan N et al.
Jimd Reports, 2022
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
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