Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 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
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 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
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
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
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
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Pinto A et al.
Nutrients, 2020
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
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Nagasaka H et al.
Molecular Genetics and Metabolism, 2017
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Lin WX et al.
Scientific Reports, 2016
Screening of SLC25A13 mutation in the Thai population.
Wongkittichote P et al.
World Journal of Gastroenterology, 2013
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.
Chen R et al.
World Journal of Gastroenterology, 2013
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ et al.
Plos One, 2013
SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma.
Chang KW et al.
Molecular Genetics and Metabolism, 2011
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.
Fu HY et al.
Journal of Gastroenterology, 2011
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
Chew HB et al.
Journal of Inherited Metabolic Disease, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Ngu HL et al.
The Malaysian Journal of Pathology, 2010
Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis.
Fu HY et al.
World Journal of Gastroenterology, 2010
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Nagasaka H et al.
Molecular Genetics and Metabolism, 2009
[SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids].
Zhang SR et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2008
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
Tabata A et al.
Journal of Human Genetics, 2008
Six cases of citrin deficiency in Korea.
Ko JM et al.
International Journal of Molecular Medicine, 2007
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.
Ko JS et al.
Journal of Korean Medical Science, 2007
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.
Tokuhara D et al.
Molecular Genetics and Metabolism, 2007
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.
Yeh JN et al.
The Journal of Pediatrics, 2006
Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!
Ghosh U et al.
Journal of Clinical and Experimental Hepatology, 0
Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.
Cheng RL et al.
Molecular Genetics and Metabolism, 0