Associated Papers
Hepatic encephalopathy in a 16-year-old girl: A case of adult-onset hereditary metabolic liver disease.
Guan X et al.
Journal of Hepatology, 2025
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
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
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 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
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 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
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
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
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
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.
Tran NH et al.
Human Mutation, 2021
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Arai-Ichinoi N et al.
Journal of Inherited Metabolic Disease, 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
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis.
Zeng Q et al.
Frontiers in Pediatrics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Y et al.
Journal of Inherited Metabolic Disease, 2020
[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].
Lin GZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report.
Zhang L et al.
Bmc Pediatrics, 2019
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.
Lin H et al.
Frontiers in Genetics, 2019
[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].
Shi S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
[Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency].
Li H et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018