1. Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele
    Zhan-Hui Zhang et al, 2017, Oncotarget CrossRef
  2. The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases
    Camilla Ceccatelli Berti et al, 2021, Genes CrossRef
  3. Bioinformatic and functional analysis of promoter region of human SLC25A13 gene
    Jun-Lin Chen et al, 2019, Gene CrossRef
  4. Identification of a LargeSLC25A13Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study
    Qi-Qi Zheng et al, 2016, BioMed Research International CrossRef
  5. Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
    Chun-Ting Lu et al, 2017, Experimental Biology and Medicine CrossRef
  6. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
    Jun Kido et al, 2024, Journal of Inherited Metabolic Disease CrossRef
  7. SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
    Akella Radha Rama Devi et al, 2018, Gene CrossRef
  8. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders
    Qingyang Xiao et al, 2021, npj Genomic Medicine CrossRef
  9. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency
    Han-Shi Zeng et al, 2016, Molecular Medicine Reports CrossRef
  10. Case 1: Severe Jaundice in a 2-day-old Term Neonate
    Allison Lyle et al, 2019, NeoReviews CrossRef
  11. Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
    Jiansheng Lin et al, 2024, Clinica Chimica Acta CrossRef
  12. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
    Wei-Xia Lin et al, 2016, Scientific Reports CrossRef