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
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
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
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].
Wu T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort.
Bharathi NK et al.
Annals of Indian Academy of Neurology, 0