1. Komatsu, Michiharu, Tanaka, Naoki, Kimura, Takefumi, Yazaki, Masahide. 2023. Citrin Deficiency: Clinical and Nutritional Features. In Nutrients, 15, . doi:10.3390/nu15102284. https://pubmed.ncbi.nlm.nih.gov/37242166/
2. Lin, Wei-Xia, Zeng, Han-Shi, Zhang, Zhan-Hui, Wen, Wang-Rong, Song, Yuan-Zong. 2016. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. In Scientific reports, 6, 29732. doi:10.1038/srep29732. https://pubmed.ncbi.nlm.nih.gov/27405544/
3. Sachs, Nimrod, Wechsberg, Oded, Landau, Yuval E, Lidzbarsky, Gabriel, Orenstein, Naama. 2023. A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant. In Gene, 874, 147483. doi:10.1016/j.gene.2023.147483. https://pubmed.ncbi.nlm.nih.gov/37196891/
4. Nguyen, Mai-Huong Thi, Nguyen, Anh-Hoa Pham, Ngo, Diem-Ngoc, Nguyen, Hoai-Nghia, Tran, Minh-Dien. 2023. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis. In Journal of human genetics, 68, 305-312. doi:10.1038/s10038-022-01112-2. https://pubmed.ncbi.nlm.nih.gov/36599957/
5. Chang, Kuei-Wen, Chen, Huey-Ling, Chien, Yin-Hsiu, Chen, Tse-Ching, Yeh, Chau-Ting. 2011. SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma. In Molecular genetics and metabolism, 103, 293-6. doi:10.1016/j.ymgme.2011.03.013. https://pubmed.ncbi.nlm.nih.gov/21470889/
6. Chen, Jun-Lin, Zhang, Zhan-Hui, Li, Bing-Xiao, Cai, Zhen, Zhou, Qing-Hua. 2019. Bioinformatic and functional analysis of promoter region of human SLC25A13 gene. In Gene, 693, 69-75. doi:10.1016/j.gene.2019.01.023. https://pubmed.ncbi.nlm.nih.gov/30708027/
7. Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Kobayashi, Keiko, Saheki, Takeyori. 2013. SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. In PloS one, 8, e74544. doi:10.1371/journal.pone.0074544. https://pubmed.ncbi.nlm.nih.gov/24069319/
8. Men, Shuai, Liu, Shuang, Zheng, Qin, Tang, Xinxin, Wang, Leilei. 2023. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China. In Molecular genetics & genomic medicine, 11, e2152. doi:10.1002/mgg3.2152. https://pubmed.ncbi.nlm.nih.gov/36787440/
9. Zhang, Zhan-Hui, Lin, Wei-Xia, Deng, Mei, Zhao, Xin-Jing, Song, Yuan-Zong. 2012. Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. In Gene, 511, 227-34. doi:10.1016/j.gene.2012.09.049. https://pubmed.ncbi.nlm.nih.gov/23022256/
10. Zhang, Linlin, Li, Yingying, Shi, Wenli, Cui, Shihong, Zhang, Xiaoan. 2019. Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report. In BMC pediatrics, 19, 348. doi:10.1186/s12887-019-1751-9. https://pubmed.ncbi.nlm.nih.gov/31607264/