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Items: 1 to 20 of 116

1.

Renal phosphate handling in Gitelman syndrome--the results of a case-control study.

Viganò C, Amoruso C, Barretta F, Minnici G, Albisetti W, Syrèn ML, Bianchetti MG, Bettinelli A.

Pediatr Nephrol. 2013 Jan;28(1):65-70. doi: 10.1007/s00467-012-2297-3. Epub 2012 Sep 19.

PMID:
22990302
2.

Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.

Balavoine AS, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, Soudan B, Wémeau JL, Vantyghem MC.

Eur J Endocrinol. 2011 Oct;165(4):665-73. doi: 10.1530/EJE-11-0224. Epub 2011 Jul 13.

3.

Localization of tubular adaptation to renal sodium loss in Gitelman syndrome.

Favre GA, Nau V, Kolb I, Vargas-Poussou R, Hannedouche T, Moulin B.

Clin J Am Soc Nephrol. 2012 Mar;7(3):472-8. doi: 10.2215/CJN.00940111. Epub 2012 Jan 12.

4.

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements.

Berry MR, Robinson C, Karet Frankl FE.

Nephrol Dial Transplant. 2013 Jun;28(6):1533-42. doi: 10.1093/ndt/gfs600. Epub 2013 Jan 17.

5.

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.

Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F.

Kidney Int. 2004 Jan;65(1):25-9.

6.

Gitelman syndrome: novel mutation and long-term follow-up.

Sinha A, Lněnička P, Basu B, Gulati A, Hari P, Bagga A.

Clin Exp Nephrol. 2012 Apr;16(2):306-9. doi: 10.1007/s10157-011-0542-x. Epub 2011 Oct 4.

PMID:
21964762
7.

Gitelman syndrome as a cause of psychomotor retardation in a toddler.

Skalova S, Neuman D, Lnenicka P, Stekrova J.

Arab J Nephrol Transplant. 2013 Jan;6(1):37-9.

PMID:
23282232
8.

Early appearance of hypokalemia in Gitelman syndrome.

Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, Tedeschi S, Bianchetti MG.

Pediatr Nephrol. 2010 Oct;25(10):2179-82. doi: 10.1007/s00467-010-1575-1. Epub 2010 Jun 16.

PMID:
20552229
9.

Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.

Joo KW, Lee JW, Jang HR, Heo NJ, Jeon US, Oh YK, Lim CS, Na KY, Kim J, Cheong HI, Han JS.

Am J Kidney Dis. 2007 Nov;50(5):765-73.

PMID:
17954289
10.

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Qin L, Shao L, Ren H, Wang W, Pan X, Zhang W, Wang Z, Shen P, Chen N.

Nephrology (Carlton). 2009 Feb;14(1):52-8. doi: 10.1111/j.1440-1797.2008.01042.x. Epub 2009 Jan 21.

PMID:
19207868
11.

[Salt appetite, cramps and palpitations in a 21-year old medical secretary].

Kitterer D, Braun N, Alscher MD, Kimmel M.

Internist (Berl). 2011 Oct;52(10):1238-42. doi: 10.1007/s00108-010-2777-0. German.

PMID:
21161146
12.

The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.

Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, Kamei K, Miyashita R, Kugo M, Ohashi H, Yamazaki H, Mabe H, Otsubo A, Igarashi T, Matsuo M.

J Clin Endocrinol Metab. 2010 Dec;95(12):E511-8. doi: 10.1210/jc.2010-0392. Epub 2010 Sep 1.

PMID:
20810575
13.

Gitelman syndrome.

Knoers NV, Levtchenko EN.

Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Review.

14.

[Gitelman syndrome: a crucial role of laboratory medicine for the diagnosis].

Murienne B, Pointet P, Beaune G.

Ann Biol Clin (Paris). 2013 Mar-Apr;71(2):235-9. doi: 10.1684/abc.2013.0791. French.

15.

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

Lee JW, Lee J, Heo NJ, Cheong HI, Han JS.

J Korean Med Sci. 2016 Jan;31(1):47-54. doi: 10.3346/jkms.2016.31.1.47. Epub 2015 Dec 24. Erratum in: J Korean Med Sci. 2016 May;31(5):827.

16.

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.

van der Merwe PD, Rensburg MA, Haylett WL, Bardien S, Davids MR.

BMC Nephrol. 2017 Jan 26;18(1):38. doi: 10.1186/s12882-017-0455-3.

17.

Gitelman's syndrome: report of one case.

Chan CF, Mu SC, Lau BH, Chang CJ, Lin SH.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):31-4.

PMID:
18581727
18.

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

Tseng MH, Yang SS, Hsu YJ, Fang YW, Wu CJ, Tsai JD, Hwang DY, Lin SH.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1478-82. doi: 10.1210/jc.2012-1707. Epub 2012 Jun 7.

PMID:
22679066
19.

Atypical Gitelman syndrome with L623P mutation of the thiazide-sensitive Na-Cl cotransporter gene exhibiting lack of hypocalciuria and increased proximal tubule salt reabsorption.

Mizumori Y, Muto S, Uchida S, Sasaki S, Kusano E.

Nephrol Dial Transplant. 2006 Nov;21(11):3340-1. Epub 2006 Jul 19. No abstract available.

PMID:
16854846
20.

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

Yang SS, Lo YF, Yu IS, Lin SW, Chang TH, Hsu YJ, Chao TK, Sytwu HK, Uchida S, Sasaki S, Lin SH.

Hum Mutat. 2010 Dec;31(12):1304-15. doi: 10.1002/humu.21364. Epub 2010 Oct 14.

PMID:
20848653

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