-
2
-
-
0031681211
-
Molecular pathogenesis of Bartter's and Gitelman syndromes
-
Kurtz I (1998) Molecular pathogenesis of Bartter's and Gitelman syndromes. Kidney Int 54:1396-1410
-
(1998)
Kidney Int.
, vol.54
, pp. 1396-1410
-
-
Kurtz, I.1
-
3
-
-
0026512508
-
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes
-
Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, Marchesoni C, Mattencci C, Patriarca P, Di Natale B, Setzu C, Vitucci P (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120:38-43
-
(1992)
J. Pediatr.
, vol.120
, pp. 38-43
-
-
Bettinelli, A.1
Bianchetti, M.G.2
Girardin, E.3
Caringella, A.4
Cecconi, M.5
Appiani, A.C.6
Pavanello, L.7
Gastaldi, R.8
Isimbaldi, C.9
Lama, G.10
Marchesoni, C.11
Mattencci, C.12
Patriarca, P.13
Di Natale, B.14
Setzu, C.15
Vitucci, P.16
-
4
-
-
0031779521
-
Bartter and related syndromes: The puzzle is almost solved
-
Rodriguez-Soriano J (1998) Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12:315-327
-
(1998)
Pediatr. Nephrol.
, vol.12
, pp. 315-327
-
-
Rodriguez-Soriano, J.1
-
5
-
-
0034937876
-
Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome
-
Schmidt H, Kabesch M, Schwarz HP, Kiess W (2001) Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome. Horm Metab Res 33:354-357
-
(2001)
Horm. Metab. Res.
, vol.33
, pp. 354-357
-
-
Schmidt, H.1
Kabesch, M.2
Schwarz, H.P.3
Kiess, W.4
-
6
-
-
0028131834
-
Syndrome de Gitelman chez l' enfant: Vraie hypokaliemie mais faux syndrome de Bartter
-
Fischbach M, Hoellinger MJ, Tersic J, Matz B, Mengus L, Desprez P, Chaigne D, Stoll C, Taimi A, Simeoni U, Geisert J (1994) Syndrome de Gitelman chez l' enfant: vraie hypokaliemie mais faux syndrome de Bartter. Arch Pediatr 1:916-918
-
(1994)
Arch. Pediatr.
, vol.1
, pp. 916-918
-
-
Fischbach, M.1
Hoellinger, M.J.2
Tersic, J.3
Matz, B.4
Mengus, L.5
Desprez, P.6
Chaigne, D.7
Stoll, C.8
Taimi, A.9
Simeoni, U.10
Geisert, J.11
-
7
-
-
0029148777
-
Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome
-
Peters N, Bettinelli A, Spicker I, Basilico E, Metta MG, Bianchetti MG (1995) Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrol Dial Transplant 10:1313-1319
-
(1995)
Nephrol. Dial. Transplant.
, vol.10
, pp. 1313-1319
-
-
Peters, N.1
Bettinelli, A.2
Spicker, I.3
Basilico, E.4
Metta, M.G.5
Bianchetti, M.G.6
-
8
-
-
0032704931
-
Dose related growth response to indomethacin in Gitelman syndrome
-
Liaw LCT, Bauerjee K, Coulthard MG (1999) Dose related growth response to indomethacin in Gitelman syndrome. Arch Dis Child 81:508-510
-
(1999)
Arch. Dis. Child
, vol.81
, pp. 508-510
-
-
Liaw, L.C.T.1
Bauerjee, K.2
Coulthard, M.G.3
-
10
-
-
0035136314
-
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
-
Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59:710-717
-
(2001)
Kidney Int.
, vol.59
, pp. 710-717
-
-
Cruz, D.N.1
Shaer, A.J.2
Bia, M.J.3
Lifton, R.P.4
Simon, D.B.5
-
11
-
-
0024350319
-
Variant of Bartter's syndrome with a distal tubular rather than loop of Henle defect
-
Koomans AH, Hené RJ, Mees EJD, Boer WH (1989) Variant of Bartter's syndrome with a distal tubular rather than loop of Henle defect. Nephron 53:164-165
-
(1989)
Nephron
, vol.53
, pp. 164-165
-
-
Koomans, A.H.1
Hené, R.J.2
Mees, E.J.D.3
Boer, W.H.4
-
12
-
-
0026482217
-
Bartter's syndrome: Evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome
-
Sutton RAL, Marichak V, Halabe A, Wilkins GE (1992) Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Min Electrol Metab 18:43-51
-
(1992)
Min. Electrol. Metab.
, vol.18
, pp. 43-51
-
-
Sutton, R.A.L.1
Marichak, V.2
Halabe, A.3
Wilkins, G.E.4
-
13
-
-
0025271643
-
Molecular mechanisms of diuretic agents
-
Breyer J, Jacobson HR (1990) Molecular mechanisms of diuretic agents. Ann Rev Med 41:265-275
-
(1990)
Ann. Rev. Med.
, vol.41
, pp. 265-275
-
-
Breyer, J.1
Jacobson, H.R.2
-
14
-
-
0027405688
-
Primary structure and functional expression of a cDNA encoding the thiazide sensitive, electroneutral sodium-chloride cotransporter
-
Gamba G, Saltzberg SN, Lombardi N (1993) Primary structure and functional expression of a cDNA encoding the thiazide sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci U S A 90:2749-2753
-
(1993)
Proc. Natl. Acad. Sci. U S A
, vol.90
, pp. 2749-2753
-
-
Gamba, G.1
Saltzberg, S.N.2
Lombardi, N.3
-
15
-
-
0028201013
-
Molecular cloning, primary structure, and characterisation of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney
-
Gamba G, Miyanoshita A, Lombardi N (1994) Molecular cloning, primary structure, and characterisation of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem 269:17713-17723
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 17713-17723
-
-
Gamba, G.1
Miyanoshita, A.2
Lombardi, N.3
-
16
-
-
0031974389
-
Iontransporter mutations in Gitelman's and Bartter's syndromes
-
Simon DB, Lifton RP (1998) Iontransporter mutations in Gitelman's and Bartter's syndromes. Curr Opin Nephrol Hypertens 7:43-47
-
(1998)
Curr. Opin. Nephrol. Hypertens.
, vol.7
, pp. 43-47
-
-
Simon, D.B.1
Lifton, R.P.2
-
17
-
-
17144462641
-
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localisation to the C-terminal domain
-
Lemmink HH, Knoers NVAM, Karolyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LAH, van den Heuvel LPWJ (1998) Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localisation to the C-terminal domain. Kidney Int 54:720-730
-
(1998)
Kidney Int.
, vol.54
, pp. 720-730
-
-
Lemmink, H.H.1
Knoers, N.V.A.M.2
Karolyi, L.3
van Dijk, H.4
Niaudet, P.5
Antignac, C.6
Guay-Woodford, L.M.7
Goodyer, P.R.8
Carel, J.C.9
Hermes, A.10
Seyberth, H.W.11
Monnens, L.A.H.12
van den Heuvel, L.P.W.J.13
-
18
-
-
0034855548
-
Gitelman's syndrome: An overlooked cause of chronic hypokalemia and hypomagnesemia in adults
-
Schepkens H, Lameire N (2001) Gitelman's syndrome: an overlooked cause of chronic hypokalemia and hypomagnesemia in adults. Acta Clin Belgica 56:248-254
-
(2001)
Acta Clin. Belgica
, vol.56
, pp. 248-254
-
-
Schepkens, H.1
Lameire, N.2
-
19
-
-
0030975973
-
Abnormal reabsorption of NaCl by the thiazide inhibitable transporter of the distal convoluted tubule in Gitelman's syndrome
-
Colussi G, Rombola G, Brunati C, De Ferrari ME (1997) Abnormal reabsorption of NaCl by the thiazide inhibitable transporter of the distal convoluted tubule in Gitelman's syndrome. Am J Nephrol 17:103-111
-
(1997)
Am. J. Nephrol.
, vol.17
, pp. 103-111
-
-
Colussi, G.1
Rombola, G.2
Brunati, C.3
De Ferrari, M.E.4
-
20
-
-
0029093611
-
Chronic hypokalemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare
-
Gladziwa U, Schwarz R, Gitter AH, Bijman J, Seyberth H, Beck F, Ritz E, Gross P (1995) Chronic hypokalemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. Nephrol Dial Transplant 19:1607-1613
-
(1995)
Nephrol. Dial. Transplant.
, vol.19
, pp. 1607-1613
-
-
Gladziwa, U.1
Schwarz, R.2
Gitter, A.H.3
Bijman, J.4
Seyberth, H.5
Beck, F.6
Ritz, E.7
Gross, P.8
-
21
-
-
0034976865
-
Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome
-
Bonfante L, Davis PA, Spinello M, Antonello A, D'Angelo A, Semplicini A, Calo L (2001) Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome. Am J Kidney Dis 38:165-168
-
(2001)
Am. J. Kidney Dis.
, vol.38
, pp. 165-168
-
-
Bonfante, L.1
Davis, P.A.2
Spinello, M.3
Antonello, A.4
D'Angelo, A.5
Semplicini, A.6
Calo, L.7
-
22
-
-
0031202897
-
Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter
-
Takeuchi K, Kato T, Taniyama Y, Tsunoda K, Takahashi N, Ikeda Y, Omata K, Imai Y, Saito T, Ito S, Abe K (1997) Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter. Int Med 36:582-585
-
(1997)
Int. Med.
, vol.36
, pp. 582-585
-
-
Takeuchi, K.1
Kato, T.2
Taniyama, Y.3
Tsunoda, K.4
Takahashi, N.5
Ikeda, Y.6
Omata, K.7
Imai, Y.8
Saito, T.9
Ito, S.10
Abe, K.11
-
23
-
-
0037082531
-
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
-
Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G, Konrad M, Seyberth HW (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112:183-190
-
(2002)
Am. J. Med.
, vol.112
, pp. 183-190
-
-
Peters, M.1
Jeck, N.2
Reinalter, S.3
Leonhardt, A.4
Tönshoff, B.5
Klaus, G.6
Konrad, M.7
Seyberth, H.W.8
-
24
-
-
85085399956
-
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes
-
Szargal R, Nakhoul F, Hawash A, Labay V, Khateeb E, Cohen N, Zelikovic I (2001) A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. J Am Soc Nephrol 12:561A
-
(2001)
J. Am. Soc. Nephrol.
, vol.12
-
-
Szargal, R.1
Nakhoul, F.2
Hawash, A.3
Labay, V.4
Khateeb, E.5
Cohen, N.6
Zelikovic, I.7
-
25
-
-
0032791379
-
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?
-
Bettinelli A, Rusconi R, Ciarmatori S, Righini V, Zammarchi E, Donati MA, Isimbaldi C, Bevilacqua M, Cesareo L, Tedeschi S, Garavaglia R, Casari G (1999) Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome? Pediatr Res 46:232-238
-
(1999)
Pediatr. Res.
, vol.46
, pp. 232-238
-
-
Bettinelli, A.1
Rusconi, R.2
Ciarmatori, S.3
Righini, V.4
Zammarchi, E.5
Donati, M.A.6
Isimbaldi, C.7
Bevilacqua, M.8
Cesareo, L.9
Tedeschi, S.10
Garavaglia, R.11
Casari, G.12
-
26
-
-
0036014925
-
Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome
-
v d
-
De Jong C, van der Vliet WA, v d Heuvel L, Willems PHGM, Knoers NVAM, Bindels RJM (2002) Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13:1442-1448
-
(2002)
J. Am. Soc. Nephrol.
, vol.13
, pp. 1442-1448
-
-
De Jong, C.1
van der Vliet, W.A.2
Heuvel, L.3
Willems, P.H.G.M.4
Knoers, N.V.A.M.5
Bindels, R.J.M.6
-
27
-
-
15444355650
-
- cotransporter of the distal convoluted tubule
-
- cotransporter of the distal convoluted tubule. J Biol Chem 273:29150-29155
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 29150-29155
-
-
Schultheis, P.J.1
Lorenz, J.N.2
Meneton, P.3
Nieman, M.L.4
Riddle, T.M.5
Flagella, M.6
Duffy, J.J.7
Doetschman, T.8
Miller, M.L.9
Skull, G.E.10
-
28
-
-
0033695807
-
Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndromes
-
Ellison DH (2000) Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes. Am J Physiol 279:F616-F625
-
(2000)
Am. J. Physiol.
, vol.279
-
-
Ellison, D.H.1
-
29
-
-
0035723057
-
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes
-
v d
-
Calo L, Ceolotto G, Milani M, Pagnin E, v d Heuvel L, Sartori M, Davis PA, Costa R, Semplicini A (2001) Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes. Kidney Int 60:882-889
-
(2001)
Kidney Int.
, vol.60
, pp. 882-889
-
-
Calo, L.1
Ceolotto, G.2
Milani, M.3
Pagnin, E.4
Heuvel, L.5
Sartori, M.6
Davis, P.A.7
Costa, R.8
Semplicini, A.9
-
30
-
-
0036087077
-
Interaction with grp 58 increases activity of the thiazide-sensitive Na-Cl cotransporter
-
Wyse B, Ali N, Ellison DH (2001) Interaction with grp 58 increases activity of the thiazide-sensitive Na-Cl cotransporter. Am J Physiol 282:F424-F430
-
(2001)
Am. J. Physiol.
, vol.282
-
-
Wyse, B.1
Ali, N.2
Ellison, D.H.3
|