- 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 - Hypoketotic hypoglycemia in citrin deficiency: a case report
Yoichi Wada et al, 2020, BMC Pediatrics CrossRef - 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 - 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 - The therapeutic landscape of citrin deficiency
Toni Vuković et al, 2024, Journal of Inherited Metabolic Disease CrossRef - Clinical and Genetic Spectra of Inherited Liver Disease in Children in China
Youhong Fang et al, 2021, Frontiers in Pediatrics CrossRef - 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 - Anesthetic Management in a Child With Citrullinemia: A Case Report
Mohammad Gharavifard et al, 2014, Anesthesiology and Pain Medicine CrossRef - 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 - 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 - 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 - A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency
Hui Lin et al, 2024, Discover Oncology CrossRef - Hepatic cirrhosis in a citrin-deficient infant
Chun-ting Lu et al, 2016, 2016 Sixth International Conference on Information Science and Technology (ICIST) CrossRef - A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
Jiayi He et al, 2019, Frontiers in Pediatrics CrossRef - Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
Pingrun Chen et al, 2021, Open Medicine CrossRef - 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 - Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
Qinlong Zeng et al, 2021, Frontiers in Pediatrics CrossRef - Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency
Ting Zhang et al, 2022, Frontiers in Molecular Biosciences CrossRef - Features of liver injury in 138 Chinese patients with NICCD
MinYan Jiang et al, 2023, Journal of Pediatric Endocrinology and Metabolism CrossRef