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
Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.
Gu X et al.
Frontiers in Molecular Biosciences, 2024
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Daou M et al.
Molecular Genetics & Genomic Medicine, 2023
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Kose E et al.
Clinical Biochemistry, 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
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Diez-Fernandez C et al.
Journal of Medical Genetics, 2016
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 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
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Investigation of citrullinemia type I variants by in vitro expression studies.
Berning C et al.
Human Mutation, 2008
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
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
Ruitenbeek W et al.
Annals of Clinical Biochemistry, 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