Gitelman's Syndrome with Mental Retardation
Author:
Affiliation:
1. Division of Internal Medicine, Takikawa City Hospital
2. Department of Pediatrics, Hokkaido University Graduate School of Medicine
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/45/4/45_4_211/_pdf
Reference14 articles.
1. 1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assos Am Physicians 79: 221-235, 1966.
2. 2. Simon DB, NelsonWilliams C, Bia MJ et al. Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutation in the thiazidesensitive NaCl cotransporter. Nat Genet 12: 24-30, 1996.
3. 3. Cruz DN, Shaer AJ, Bia MJ et al. Gitelman's syndrome revisited:An evaluation of symptoms and healthrelated quality of life. Kidney Int 59: 710-717, 2001.
4. 4. Tajima T, Kobayashi Y, Abe S et al. Two novel mutation of thiazidesensitive NaCl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman's syndrome. Endocr J 49: 91-96, 2002.
5. 5. Mastroianni N, Bettinelli A, Bianchetti M et al. Novel molecular variants of the NaCl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026, 1996.
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