Literature DB >> 16837915

From bench to bedside: diagnosis of Gitelman's syndrome -- defect of sodium-chloride cotransporter in renal tissue.

H R Jang1, J W Lee, Y K Oh, K Y Na, K W Joo, U S Jeon, H I Cheong, J Kim, J S Han.   

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Year:  2006        PMID： 16837915     DOI： 10.1038/sj.ki.5001694

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  8 in total

Review 1.  Understanding Bartter syndrome and Gitelman syndrome.

Authors:  Oliver T Fremont; James C M Chan
Journal:  World J Pediatr       Date:  2012-01-27       Impact factor: 2.764

2.  Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.

Authors:  Yi-Fen Lo; Kandai Nozu; Kazumoto Iijima; Takahiro Morishita; Che-Chung Huang; Sung-Sen Yang; Huey-Kang Sytwu; Yu-Wei Fang; Min-Hua Tseng; Shih-Hua Lin
Journal:  Clin J Am Soc Nephrol       Date:  2010-11-04       Impact factor: 8.237

3.  Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Authors:  Kandai Nozu; Yoshimi Nozu; Keita Nakanishi; Takao Konomoto; Tomoko Horinouchi; Akemi Shono; Naoya Morisada; Shogo Minamikawa; Tomohiko Yamamura; Junya Fujimura; Koichi Nakanishi; Takeshi Ninchoji; Hiroshi Kaito; Ichiro Morioka; Mariko Taniguchi-Ikeda; Igor Vorechovsky; Kazumoto Iijima
Journal:  J Hum Genet       Date:  2016-10-27       Impact factor: 3.172

4.  Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene.

Authors:  Sahoko Kamejima; Izumi Yamamoto; Akiko Tajiri; Yudo Tanno; Ichiro Ohkido; Takashi Yokoo
Journal:  Intern Med       Date:  2020-12-15       Impact factor: 1.271

5.  Diuretic loading test and use of Bartter's Normogram in diagnosing a case of Gitelman's syndrome: Relook into pathophysiology.

Authors:  R P Goswami; S Mandal; P S Karmakar; A Ghosh
Journal:  Indian J Nephrol       Date:  2011-10

Review 6.  Liquorice-induced severe hypokalemic rhabdomyolysis with Gitelman syndrome and diabetes: A case report.

Authors:  Lu-Yang Yang; Jin-Hua Yin; Jing Yang; Yi Ren; Chen-Yu Xiang; Chun-Yan Wang
Journal:  World J Clin Cases       Date:  2019-05-26       Impact factor: 1.337

7.  Urinary Extracellular Vesicles for Renal Tubular Transporters Expression in Patients With Gitelman Syndrome.

Authors:  Chih-Chien Sung; Min-Hsiu Chen; Yi-Chang Lin; Yu-Chun Lin; Yi-Jia Lin; Sung-Sen Yang; Shih-Hua Lin
Journal:  Front Med (Lausanne)       Date:  2021-06-09

8.  Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Authors:  Jae Wook Lee; Jeonghwan Lee; Nam Ju Heo; Hae Il Cheong; Jin Suk Han
Journal:  J Korean Med Sci       Date:  2015-12-24       Impact factor: 2.153
  8 in total

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