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
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
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
Zhang T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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
Select a paper to view details