Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Disease and SLC25A13[original query] |
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| [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 |
| 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 |
| Screening of SLC25A13 mutation in the Thai population. World journal of gastroenterology : WJG 2013 Nov 19 (43): 7735-42. Wongkittichote Parith, Sukasem Chonlaphat, Kikuchi Atsuo, Aekplakorn Wichai, Jensen Laran T, Kure Shigeo, Wattanasirichaigoon Duangrurd |
| Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. The Tohoku journal of experimental medicine 2014 233 (4): 275-81. Zhang Zhan-Hui, Yang Zhi-Gang, Chen Feng-Ping, Kikuchi Atsuo, Liu Zhen-Huan, Kuang Li-Zhen, Li Wei-Ming, Song Yuan-Zong, Kure Shigeo, Saheki Takeyo |
| p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. The Turkish journal of pediatrics 2018 1 59 (3): 311-314. ?eker-Y?lmaz Berna, Kör Deniz, Tümgör Gökhan, Ceylaner Serdar, Önenli-Mungan Neslih |
| 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 |
| Revisiting Schizophrenia from an Evolutionary Perspective: An Association Study of Recent Evolutionary Markers and Schizophrenia. Schizophrenia bulletin 2020 Dec . Bhattacharyya Upasana, Deshpande Smita N, Bhatia Triptish, Thelma B |
| [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 |
| Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis. Frontiers in pediatrics 2021 5 9 654527. Zeng Qinlong, Yang Yingsong, Luo Jiahong, Xu Jinmei, Deng Choufen, Yang Yuanjuan, Tan Shuming, Sun Shuxiang, Li Yuping, Ou To |
| [Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
| Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
| Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study. Urology journal 2024 12 . Sevim Yener, Metin Es |
- Page last reviewed:Feb 1, 2024
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