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Wongkittichote P, Sukasem C, Kikuchi A, Aekplakorn W, Jensen LT, Kure S, Wattanasirichaigoon D. Screening of |
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URL: | https://www.wjgnet.com/1007-9327/full/v19/i43/7735.htm |
Number | Citing Articles |
1 |
Sotiria Tavoulari, Denis Lacabanne, Chancievan Thangaratnarajah, Edmund R.S. Kunji. Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency. Trends in Endocrinology & Metabolism 2022; 33(8): 539 doi: 10.1016/j.tem.2022.05.002
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2 |
Mai-Huong Thi Nguyen, Anh-Hoa Pham Nguyen, Diem-Ngoc Ngo, Phuong-Mai Thi Nguyen, Hung-Sang Tang, Hoa Giang, Y-Thanh Lu, Hoai-Nghia Nguyen, Minh-Dien Tran. 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; 68(5): 305 doi: 10.1038/s10038-022-01112-2
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3 |
Chalongchai Chalermwat, Thitipa Thosapornvichai, Parith Wongkittichote, John D Phillips, James E Cox, Amornrat N Jensen, Duangrurdee Wattanasirichaigoon, Laran T Jensen. Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p. FEMS Yeast Research 2019; 19(8) doi: 10.1093/femsyr/foz078
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4 |
Wei-Xia Lin, Han-Shi Zeng, Zhan-Hui Zhang, Man Mao, Qi-Qi Zheng, Shu-Tao Zhao, Ying Cheng, Feng-Ping Chen, Wang-Rong Wen, Yuan-Zong Song. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. Scientific Reports 2016; 6(1) doi: 10.1038/srep29732
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5 |
Yiming Lin, Yaru Liu, Lin Zhu, Kaixing Le, Yuyan Shen, Chiju Yang, Xigui Chen, Haili Hu, Qingqing Ma, Xueqin Shi, Zhenzhen Hu, Jianbin Yang, Yaping Shen, Chien‐Hsing Lin, Chenggang Huang, Xinwen Huang. Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency. Journal of Inherited Metabolic Disease 2020; 43(3): 467 doi: 10.1002/jimd.12206
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6 |
Chalongchai Chalermwat, Thitipa Thosapornvichai, Laran T. Jensen, Duangrurdee Wattanasirichaigoon. Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency. Diseases 2020; 8(1): 2 doi: 10.3390/diseases8010002
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7 |
HAN-SHI ZENG, SHU-TAO ZHAO, MEI DENG, ZHAN-HUI ZHANG, XIANG-RAN CAI, FENG-PING CHEN, YUAN-ZONG SONG. Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. International Journal of Molecular Medicine 2014; 34(5): 1241 doi: 10.3892/ijmm.2014.1929
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8 |
Sirilak Chuenwattana, Kanokwan Imtawil, Kanda Sornkayasit, Aree Rattanathongkom, Busara Charoenwat, Khunton Wichajarn. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants: Case reports on clinical presentation, genotype analysis, and considerations for negative newborn screening. Medical Reports 2024; 4: 100051 doi: 10.1016/j.hmedic.2024.100051
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9 |
Jun Kido, Georgios Makris, Saikat Santra, Johannes Häberle. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition. Journal of Inherited Metabolic Disease 2024; 47(6): 1144 doi: 10.1002/jimd.12722
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10 |
Yumi Yamaguchi-Kabata, Jun Yasuda, Akira Uruno, Kazuro Shimokawa, Seizo Koshiba, Yoichi Suzuki, Nobuo Fuse, Hiroshi Kawame, Shu Tadaka, Masao Nagasaki, Kaname Kojima, Fumiki Katsuoka, Kazuki Kumada, Osamu Tanabe, Gen Tamiya, Nobuo Yaegashi, Kengo Kinoshita, Masayuki Yamamoto, Shigeo Kure. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics 2019; 138(4): 389 doi: 10.1007/s00439-019-01998-7
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11 |
Zhan-Hui Zhang, Zhi-Gang Yang, Feng-Ping Chen, Atsuo Kikuchi, Zhen-Huan Liu, Li-Zhen Kuang, Wei-Ming Li, Yuan-Zong Song, Shigeo Kure, Takeyori Saheki. Screening for Five Prevalent Mutations of <i>SLC25A13</i> Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency. The Tohoku Journal of Experimental Medicine 2014; 233(4): 275 doi: 10.1620/tjem.233.275
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12 |
Song-Chang Chen, Xuan-You Zhou, Shu-Yuan Li, Ming-Min Zhao, He-Feng Huang, Jia Jia, Chen-Ming Xu. Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology. Journal of Assisted Reproduction and Genetics 2023; 40(9): 2157 doi: 10.1007/s10815-023-02876-y
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13 |
Chalitpon Na nakorn, Jariya Waisayarat, Charungthai Dejthevaporn, Pornpen Srisawasdi, Sansanee Wongwaisayawan, Chonlaphat Sukasem. Genetic Variations and Frequencies of the Two Functional Single Nucleotide Polymorphisms of SLCO1B1 in the Thai Population. Frontiers in Pharmacology 2020; 11 doi: 10.3389/fphar.2020.00728
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14 |
Wei-Xia Lin, Li-Jing Deng, Rui Liu, Jian-Wu Qiu, Yin Cheng, Zhan-Hui Zhang, Feng-Ping Chen, Yuan-Zong Song. Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13. European Journal of Medical Genetics 2021; 64(3): 104145 doi: 10.1016/j.ejmg.2021.104145
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