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
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
Chen CB et al.
The Journal of Pediatrics, 2023
[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
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.
Otsuka H et al.
The Tohoku Journal of Experimental Medicine, 2016
Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells.
Kim Y et al.
Stem Cells and Development, 2016
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.
Kikuchi A et al.
Molecular Genetics and Metabolism, 2012
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
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
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