Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.
Cen Z et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.
Huang XW et al.
World Journal of Pediatrics : Wjp, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Cen Z et al.
Orphanet Journal of Rare Diseases, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu J et al.
Frontiers in Genetics, 2023
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.
Hassanlou M et al.
International Journal of Reproductive Biomedicine, 2022
Asymptomatic ASS1 carriers with high blood citrulline levels.
Chen HA et al.
Molecular Genetics & Genomic Medicine, 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
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M et al.
Frontiers in Pediatrics, 2022
Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.
Li X et al.
Frontiers in Genetics, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y et al.
Bmc Medical Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Kose E et al.
Clinical Biochemistry, 2017
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.
Herrera Sanchez MB et al.
Stem Cell Research & Therapy, 2017
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C et al.
Human Mutation, 2017
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
Mohamed S et al.
Pediatrics and Neonatology, 2015
[ASS1 gene mutation in a neonate with citrullinemia type I].
Xie B et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
Woo HI et al.
Clinical Biochemistry, 2013
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
Faghfoury H et al.
Molecular Genetics and Metabolism, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Wasant P et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 2005
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Häberle J et al.
Molecular Genetics and Metabolism, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ et al.
Human Mutation, 2003
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Häberle J et al.
Human Genetics, 2002
The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis.
Lemke CT et al.
Structure (london, England : 1993), 2001
Mutations and DNA diagnoses of classical citrullinemia.
Kakinoki H et al.
Human Mutation, 1997
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Kobayashi K et al.
Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1994
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Kobayashi K et al.
Molecular Biology & Medicine, 1991
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
Kobayashi K et al.
The Journal of Biological Chemistry, 1990
Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Shaheen N et al.
Enzyme & Protein, 0