Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
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
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
The effect of liver transplantation for argininemia-the largest experiences in a single center.
Cui B et al.
Translational Pediatrics, 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
Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Dorum S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Current status of surviving patients with arginase 1 deficiency in Japan.
Kido J et al.
Molecular Genetics and Metabolism Reports, 2021
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
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
Wu TF et al.
Pediatric Neurology, 2013
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
Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia.
Lavulo LT et al.
Archives of Biochemistry and Biophysics, 2002
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
Molecular basis of phenotypic variation in patients with argininemia.
Uchino T et al.
Human Genetics, 1995
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
Uchino T et al.
American Journal of Human Genetics, 1992