Associated Papers
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.
De Bruyne A et al.
Journal of Inherited Metabolic Disease, 2026
Arginase 1 deficiency: a treatable form of spastic paraplegia.
Burlina A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Vela-Amieva M et al.
Molecular Genetics and Metabolism Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Moreira-Silva H et al.
European Journal of Pediatrics, 2019
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
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.
Lee PC et al.
Molecular Therapy. Nucleic Acids, 2016
Arginase-1 deficiency.
Sin YY et al.
Journal of Molecular Medicine (berlin, Germany), 2015
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.
Schlune A et al.
Amino Acids, 2015
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Mohseni J et al.
Gene, 2014
Liver transplantation prevents progressive neurological impairment in argininemia.
Silva ES et al.
Jimd Reports, 2013
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Carvalho DR et al.
Gene, 2012
Hyperargininemia: a family with a novel mutation in an unexpected site.
Cohen YH et al.
Jimd Reports, 2012
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
Gomes Martins E et al.
Journal of Inherited Metabolic Disease, 2010
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
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
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
Jain-Ghai S et al.
Molecular Genetics and Metabolism, 0