Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Cholestasis and SLC25A13[original query] |
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| Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Human mutation 2002 Feb 19 (2): 122-30. Yamaguchi Naoki, Kobayashi Keiko, Yasuda Tomotsugu, Nishi Ikumi, Iijima Mikio, Nakagawa Masanori, Osame Mitsuhiro, Kondo Ikuko, Saheki Takeyo |
| Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. Journal of human genetics 2005 50 (7): 338-46. Lu Yao Bang, Kobayashi Keiko, Ushikai Miharu, Tabata Ayako, Iijima Mikio, Li Meng Xian, Lei Lei, Kawabe Kotaro, Taura Satoru, Yang Yanling, Liu Tze-Tze, Chiang Szu-Hui, Hsiao Kwang-Jen, Lau Yu-Lung, Tsui Lap-Chee, Lee Dong Hwan, Saheki Takeyo |
| Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. World journal of gastroenterology : WJG 2010 May 16 (18): 2278-82. Fu Hai-Yan, Zhang Shao-Ren, Yu Hui, Wang Xiao-Hong, Zhu Qi-Rong, Wang Jian-S |
| [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Apr 27 (2): 2. Xing Y, Qiu W, Ye J, Han L, Xu S, Zhang H, Gao X, Wang Y, Gu X |
| High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clinica chimica acta; international journal of clinical chemistry 2011 Feb 412 (5-6): 460-5. Lin Jing-Ting, Hsiao Kwang-Jen, Chen Chiung-Yu, Wu Cheng-Chung, Lin Shio-Jean, Chou Yen-Yin, Shiesh Shu-C |
| The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. Journal of gastroenterology 2011 Apr 46 (4): 510-8. Fu Hai-Yan, Zhang Shao-Ren, Wang Xiao-Hong, Saheki Takeyori, Kobayashi Keiko, Wang Jian-S |
| [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2011 Apr 13 (4): 303-8. Wen Peng-Qiang, Wang Guo-Bing, Chen Zhan-Ling, Cui Dong, Yuan Quan, Song Ping, Chen Shu-Li, Liao Jian-Xiang, Li Cheng-Ro |
| Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. BMC gastroenterology 2012 12 (1): 141. Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurd |
| Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Molecular genetics and metabolism 2012 Apr 105 (4): 553-8. Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto Osamu, Matsubara Yoichi, Saheki Takeyori, Kobayashi Keiko, Ohura Toshihro, Kure Shig |
| SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PloS one 2013 8 (9): e74544. Song Yuan-Zong, Zhang Zhan-Hui, Lin Wei-Xia, Zhao Xin-Jing, Deng Mei, Ma Yan-Li, Guo Li, Chen Feng-Ping, Long Xiao-Ling, He Xiang-Ling, Sunada Yoshihide, Soneda Shun, Nakatomi Akiko, Dateki Sumito, Ngu Lock-Hock, Kobayashi Keiko, Saheki Takeyo |
| Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis. World journal of gastroenterology : WJG 2013 Jul 19 (28): 4545-51. Chen Rui, Wang Xiao-Hong, Fu Hai-Yan, Zhang Shao-Ren, Abudouxikuer Kuerbanjiang, Saheki Takeyori, Wang Jian-S |
| [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Oct 34 (5): 676-679. Lin Yiming, Yu Ke, Li Lufeng, Zheng Zhenzhu, Lin Weihua, Fu Qingl |
| SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations. Gene 2018 5 668 190-195. Radha Rama Devi Akella, Naushad Shaik Mohamm |
| Molecular findings in children with inherited intrahepatic cholestasis. Pediatric research 2019 Aug . Wang Neng-Li, Lu Yi, Gong Jing-Yu, Xie Xin-Bao, Lin Jing, Abuduxikuer Kuerbanjiang, Zhang Mei-Hong, Wang Jian-S |
| Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency. Journal of inherited metabolic disease 2019 Dec . Lin Yiming, Liu Yaru, Zhu Lin, Le Kaixing, Shen Yuyan, Yang Chiju, Chen Xigui, Hu Haili, Ma Qingqing, Shi Xueqin, Hu Zhenzhen, Yang Jianbin, Shen Yaping, Lin Chien-Hsing, Huang Chenggang, Huang Xinw |
| [Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment]. Postepy biochemii 2021 8 67 (2): 157-162. Lipi?ski Patryk, Ciara El?bieta, Ehmke Vel Emczy?ska-Seliga Ewa, Jankowska Ire |
| Genetic background and clinical characteristics of infantile hyperammonemia. Translational pediatrics 2023 6 12 (5): 882-889. Mengyao Li, Xiang Chen, Huiyao Chen, Liyuan Hu, Yun Cao, Guoqiang Cheng, Laishuan Wang, Bingbing Wu, Wei Lu, Lin Yang, Wenhao Zh |
| The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis. Journal of human genetics 2023 1 . Nguyen Mai-Huong Thi, Nguyen Anh-Hoa Pham, Ngo Diem-Ngoc, Nguyen Phuong-Mai Thi, Tang Hung-Sang, Giang Hoa, Lu Y-Thanh, Nguyen Hoai-Nghia, Tran Minh-Di |
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