Associated Papers
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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 for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 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
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
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
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J et al.
Journal of Inherited Metabolic Disease, 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
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
Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.
Li X et al.
Frontiers in Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.
Chong SC et al.
Molecular Genetics and Metabolism Reports, 2018
Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.
Yeo M et al.
Molecular Genetics and Metabolism, 0