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
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Khoja S et al.
Molecular Therapy. Nucleic Acids, 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
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
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
Gomes Martins E et al.
Journal of Inherited Metabolic Disease, 2010
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
Scaglia F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
Korman SH et al.
Prenatal Diagnosis, 2004
Genetic approach to prenatal diagnosis in urea cycle defects.
Häberle J et al.
Prenatal Diagnosis, 2004
Prenatal diagnosis for arginase deficiency: a case study.
Hewson S et al.
Journal of Inherited Metabolic Disease, 2003
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
Cardoso ML et al.
Human Mutation, 1999
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.
Ash DE et al.
Molecular Genetics and Metabolism, 1998
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
Vockley JG et al.
Human Mutation, 1994