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
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
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
Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.
Yeo M et al.
Molecular Genetics and Metabolism, 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
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