Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
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
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report.
Cai X et al.
Medicine, 2018
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
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
Carvalho DR et al.
Gene, 2012
Argininemia presenting with progressive spastic diplegia.
Lee BH et al.
Pediatric Neurology, 2011
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.
Ash DE et al.
Molecular Genetics and Metabolism, 1998
Molecular basis of phenotypic variation in patients with argininemia.
Uchino T et al.
Human Genetics, 1995
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