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
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Khoja S et al.
Molecular Therapy. Nucleic Acids, 2022
35694211 (PubMed )
Supplement: mmc2.pdf
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
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
Roles of conserved residues in the arginase family.
Perozich J et al.
Biochimica Et Biophysica Acta, 1998
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
Vockley JG et al.
Human Mutation, 1994
Select a paper to view details