1. 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
  2. Hypoketotic hypoglycemia in citrin deficiency: a case report
    Yoichi Wada et al, 2020, BMC Pediatrics CrossRef
  3. Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases
    Hui Lin et al, 2019, Frontiers in Genetics CrossRef
  4. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency
    Kena Wang et al, 2023, Frontiers in Pediatrics CrossRef
  5. The therapeutic landscape of citrin deficiency
    Toni Vuković et al, 2024, Journal of Inherited Metabolic Disease CrossRef
  6. Clinical and Genetic Spectra of Inherited Liver Disease in Children in China
    Youhong Fang et al, 2021, Frontiers in Pediatrics CrossRef
  7. Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan
    Jun Kido et al, 2022, Journal of Inherited Metabolic Disease CrossRef
  8. Anesthetic Management in a Child With Citrullinemia: A Case Report
    Mohammad Gharavifard et al, 2014, Anesthesiology and Pain Medicine CrossRef
  9. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
    Ting Wang et al, 2019, Frontiers in Genetics CrossRef
  10. Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband
    Xin-Jing Zhao et al, 2011, The Tohoku Journal of Experimental Medicine CrossRef
  11. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
    Jun Kido et al, 2023, Journal of Inherited Metabolic Disease CrossRef
  12. A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency
    Hui Lin et al, 2024, Discover Oncology CrossRef
  13. Hepatic cirrhosis in a citrin-deficient infant
    Chun-ting Lu et al, 2016, 2016 Sixth International Conference on Information Science and Technology (ICIST) CrossRef
  14. A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
    Jiayi He et al, 2019, Frontiers in Pediatrics CrossRef
  15. Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
    Pingrun Chen et al, 2021, Open Medicine CrossRef
  16. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China
    Shuai Men et al, 2023, Molecular Genetics & Genomic Medicine CrossRef
  17. Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
    Qinlong Zeng et al, 2021, Frontiers in Pediatrics CrossRef
  18. Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency
    Ting Zhang et al, 2022, Frontiers in Molecular Biosciences CrossRef
  19. Features of liver injury in 138 Chinese patients with NICCD
    MinYan Jiang et al, 2023, Journal of Pediatric Endocrinology and Metabolism CrossRef