For: | Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH. Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature. World J Gastroenterol 2018; 24(35): 4086-4092 [PMID: 30254413 DOI: 10.3748/wjg.v24.i35.4086] |
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URL: | https://www.wjgnet.com/1007-9327/full/v24/i35/4086.htm |
Number | Citing Articles |
1 |
Jing Zhao, Yi-Ling Qiu, Li Wang, Zhong-Die Li, Xin-Bao Xie, Yi Lu, Kenneth D.R. Setchell, Ye Cheng, Qing-He Xing, Jian-She Wang. Recurrent AKR1D1 c.580-13T>A Variant. The Journal of Molecular Diagnostics 2023; 25(4): 227 doi: 10.1016/j.jmoldx.2023.01.004
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2 |
Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin. ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid. Orphanet Journal of Rare Diseases 2023; 18(1) doi: 10.1186/s13023-023-02984-z
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3 |
Akihiko Kimura, Tatsuki Mizuochi, Hajime Takei, Akira Ohtake, Jun Mori, Kunihiro Shinoda, Takuji Hashimoto, Mureo Kasahara, Takao Togawa, Tsuyoshi Murai, Takashi Iida, Hiroshi Nittono. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment. Digestive Diseases and Sciences 2021; 66(11): 3885 doi: 10.1007/s10620-020-06722-4
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4 |
Jacek Kędzierski, Julien A. Allard, Alex Odermatt, Martin Smieško. Assessment of the inhibitory potential of anabolic steroids towards human AKR1D1 by computational methods and in vitro evaluation. Toxicology Letters 2023; 384: 1 doi: 10.1016/j.toxlet.2023.07.006
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5 |
Tianxing Dai, Linsen Ye, Haoyuan Yu, Kun Li, Jing Li, Rongqiang Liu, Xu Lu, Mingbin Deng, Rong Li, Wei Liu, Yang Yang, Guoying Wang. Regulation Network and Prognostic Significance of Aldo-Keto Reductase (AKR) Superfamily Genes in Hepatocellular Carcinoma. Journal of Hepatocellular Carcinoma 2021; : 997 doi: 10.2147/JHC.S323743
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6 |
Mitsuyoshi Suzuki, Hajime Takei, Hiromi Suzuki, Jun Mori, Satoru Sugimoto, Tatsuki Mizuochi, Akira Ohtake, Hisamitsu Hayashi, Akihiko Kimura, Hiroshi Nittono. Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders. Molecular Genetics and Metabolism Reports 2024; 41: 101166 doi: 10.1016/j.ymgmr.2024.101166
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7 |
Ricardo Espinosa-Escudero, Elisa Herraez, Anabel Sanchez-Martin, Paula Sanchon-Sanchez, Jose J. G. Marin, Maria J. Monte. Cholestasis associated to inborn errors in bile acid synthesis. Exploration of Digestive Diseases 2022; : 137 doi: 10.37349/edd.2022.00010
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8 |
Yamato Muto, Mitsuyoshi Suzuki, Hajime Takei, Nobutomo Saito, Jun Mori, Satoru Sugimoto, Kazuo Imagawa, Ryusuke Nambu, Saori Oguri, Tomoyo Itonaga, Kenji Ihara, Hisamitsu Hayashi, Kei Murayama, Genta Kakiyama, Hiroshi Nittono, Toshiaki Shimizu. Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites. Molecular Genetics and Metabolism 2023; 140(1-2): 107703 doi: 10.1016/j.ymgme.2023.107703
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9 |
Anh-Hoa Nguyen Pham, Kim-Oanh Bui Thi, Mai-Huong Nguyen Thi, Diem-Ngoc Ngo, Nakayuki Naritaka, Hiroshi Nittono, Hisamitsu Hayashi, Trang Thi Dao, Kim-Huong Thi Nguyen, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang, Tat-Thanh Nguyen, Dinh-Kiet Truong, Minh-Dien Tran. Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing. Medicine 2022; 101(25): e29476 doi: 10.1097/MD.0000000000029476
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