Associated Papers
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic SLC25A13 Variants.
Jang MA et al.
Annals of Laboratory Medicine, 2025
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes.
Zou Y et al.
Bmc Gastroenterology, 2025
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.
Selamioğlu A et al.
The Turkish Journal of Pediatrics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis.
Tsai MM et al.
Clinical and Experimental Pediatrics, 2025
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Wang P et al.
Orphanet Journal of Rare Diseases, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].
Zhu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.
Lin J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Lai G et al.
Frontiers in Public Health, 2024
Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Li J et al.
Frontiers in Pediatrics, 2024
The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.
Chen CY et al.
Pediatric Research, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.
Sun W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
Nguyen MT et al.
Journal of Human Genetics, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.
Wang K et al.
Frontiers in Pediatrics, 2023
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj 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
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Cheng Z et al.
Frontiers in Genetics, 2022
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.
Zhang T et al.
Frontiers in Molecular Biosciences, 2022
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.
Lau NKC et al.
Pathology, 2021
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report.
Hu SW et al.
Medicina (kaunas, Lithuania), 2021
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.
Lin WX et al.
Translational Pediatrics, 2021
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Wang MJ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia.
Chen P et al.
Open Medicine (warsaw, Poland), 2021
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis.
Zeng Q et al.
Frontiers in Pediatrics, 2021