Associated Papers
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Vela-Amieva M et al.
Molecular Genetics and Metabolism Reports, 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
Argininemia and vitamin K-dependent coagulation factors deficiency: A case report and a brief review of the literature.
Hadj TB et al.
Thrombosis Research, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
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
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Mohseni J et al.
Gene, 2014
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
Scholl-Bürgi S et al.
Journal of Inherited Metabolic Disease, 2008
Subunit-subunit interactions in trimeric arginase. Generation of active monomers by mutation of a single amino acid.
Lavulo LT et al.
The Journal of Biological Chemistry, 2001
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.
Ash DE et al.
Molecular Genetics and Metabolism, 1998
Molecular genetic study of human arginase deficiency.
Grody WW et al.
American Journal of Human Genetics, 1992
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
Jain-Ghai S et al.
Molecular Genetics and Metabolism, 0