Associated Papers
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 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
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M et al.
Frontiers in Pediatrics, 2022
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y et al.
Human Genetics, 2019
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R et al.
Molecular Genetics and Metabolism, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia.
Cho JH et al.
Obstetrics & Gynecology Science, 2014
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
Woo HI et al.
Clinical Biochemistry, 2013
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.
Rhee Y et al.
Clinics and Practice, 2013
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
Lee BH et al.
Molecular Genetics and Metabolism, 2013
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
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
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.
Kido J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0