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Volumn 45, Issue 4, 2006, Pages 211-213

Gitelman's syndrome with mental retardation

Author keywords

Gitelman's syndrome; Mental retardation; Mutation; TSC gene

Indexed keywords

CANRENOATE POTASSIUM; COTRANSPORTER; MAGNESIUM; MAGNESIUM OXIDE; POTASSIUM; SODIUM CHLORIDE COTRANSPORTER; SPIRONOLACTONE; UNCLASSIFIED DRUG;

EID: 33645024172     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.45.1513     Document Type: Article
Times cited : (5)

References (14)
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    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assos Am Physicians 79: 221-235, 1966.
    • (1966) Trans Assos Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 2
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutation in the thiazide-sensitive Na-Cl cotransporter
    • Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutation in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996.
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3
  • 3
    • 0035136314 scopus 로고    scopus 로고
    • Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
    • Cruz DN, Shaer AJ, Bia MJ, et al. Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int 59: 710-717, 2001.
    • (2001) Kidney Int , vol.59 , pp. 710-717
    • Cruz, D.N.1    Shaer, A.J.2    Bia, M.J.3
  • 4
    • 0036188716 scopus 로고    scopus 로고
    • Two novel mutation of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman's syndrome
    • Tajima T, Kobayashi Y, Abe S, et al. Two novel mutation of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman's syndrome. Endocr J 49: 91-96, 2002.
    • (2002) Endocr J , vol.49 , pp. 91-96
    • Tajima, T.1    Kobayashi, Y.2    Abe, S.3
  • 5
    • 0029972220 scopus 로고    scopus 로고
    • Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome
    • Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026, 1996.
    • (1996) Am J Hum Genet , vol.59 , pp. 1019-1026
    • Mastroianni, N.1    Bettinelli, A.2    Bianchetti, M.3
  • 6
    • 17144462641 scopus 로고    scopus 로고
    • Novel mutations in the thiazide-sensitive Na-Cl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain
    • Lemmink HH, Knoers N, Karolyi L, et al. Novel mutations in the thiazide-sensitive Na-Cl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 54: 720-730, 1998.
    • (1998) Kidney Int , vol.54 , pp. 720-730
    • Lemmink, H.H.1    Knoers, N.2    Karolyi, L.3
  • 7
    • 0033982893 scopus 로고    scopus 로고
    • Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
    • Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T. Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 11: 65-70, 2000.
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    • Monkawa, T.1    Kurihara, I.2    Kobayashi, K.3    Hayashi, M.4    Saruta, T.5
  • 8
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    • Association of a mutation in thiazide-sensitive Na-Cl cotransporter familial Gitelman's syndrome
    • Takeuchi K, Kure S, Kato T, et al. Association of a mutation in thiazide-sensitive Na-Cl cotransporter familial Gitelman's syndrome. J Clin Endocrinol Metab 81: 4496-4499, 1996.
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  • 9
    • 0032710270 scopus 로고    scopus 로고
    • Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome
    • Yahata K, Tanaka I, Kotani M, et al. Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome. Am J Kidney Dis 34: 845-853, 1999.
    • (1999) Am J Kidney Dis , vol.34 , pp. 845-853
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  • 11
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    • Mitsuishi C, Miyasawa Y, Awaya Y, et al. A case of Bartter's syndrome with mental retardation. Shoninaika 17: 1897-1901, 1985.
    • (1985) Shoninaika , vol.17 , pp. 1897-1901
    • Mitsuishi, C.1    Miyasawa, Y.2    Awaya, Y.3
  • 12
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    • Gitelman's syndrome and hypo-magnesemia
    • Hayashi M. Gitelman's syndrome and hypo-magnesemia. Intern Med 43: 351-352, 2004.
    • (2004) Intern Med , vol.43 , pp. 351-352
    • Hayashi, M.1
  • 13
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235, 1966.
    • (1966) Trans Assoc Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 14
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutation in the thiazide-sensitive Na-Cl cotransporter
    • Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutation in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996.
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.