-
1
-
-
0343718591
-
Pseudohypo-adrenocorticism: Renal sodium loss, hyponatremia and hyperkalemia due to a renal tubular insensitivity to mineralocorticoids
-
Donnell GN, Litman N, Roldan M. Pseudohypo-adrenocorticism: renal sodium loss, hyponatremia and hyperkalemia due to a renal tubular insensitivity to mineralocorticoids. Am J Dis Child 1959; 97: 813.
-
(1959)
Am J Dis Child
, vol.97
, pp. 813
-
-
Donnell, G.N.1
Litman, N.2
Roldan, M.3
-
2
-
-
50849151835
-
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: A new syndrome
-
Bartter FC, Pronove P, Gill JR, Jr, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 1962; 33: 811.
-
(1962)
Am J Med
, vol.33
, pp. 811
-
-
Bartter, F.C.1
Pronove, P.2
Gill J., Jr.3
Maccardle, R.C.4
-
3
-
-
0013976561
-
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 1966; 79: 221.
-
(1966)
Trans Assoc Am Physicians
, vol.79
, pp. 221
-
-
Gitelman, H.J.1
Graham, J.B.2
Welt, L.G.3
-
4
-
-
0015301796
-
Osteopetrose et acidose renale tubulaire. Deux cas de cette association dans une fratrie
-
Guibaud P, Larbre F, Freycon MT, Genoud J. Osteopetrose et acidose renale tubulaire. Deux cas de cette association dans une fratrie. Arch Fr Pediatr 1972; 29: 269.
-
(1972)
Arch Fr Pediatr
, vol.29
, pp. 269
-
-
Guibaud, P.1
Larbre, F.2
Freycon, M.T.3
Genoud, J.4
-
5
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations 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 mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996; 12: 24.
-
(1996)
Nat Genet
, vol.12
, pp. 24
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
-
6
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2cl cotransporter NKCC2
-
Simon DB, Karet FE, Hamdan JM, et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996; 13: 183.
-
(1996)
Nat Genet
, vol.13
, pp. 183
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
-
7
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
-
Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996; 12: 248.
-
(1996)
Nat Genet
, vol.12
, pp. 248
-
-
Chang, S.S.1
Grunder, S.2
Hanukoglu, A.3
-
8
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
-
Geller DS, Rodriguez-Soriano J, Vallo Boado A, et al.: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998; 19: 279.
-
(1998)
Nat Genet
, vol.19
, pp. 279
-
-
Geller, D.S.1
Rodriguez-Soriano, J.2
Vallo Boado, A.3
-
9
-
-
0026619849
-
Genetics of the mammalian carbonic anhydrases
-
Tashian RE. Genetics of the mammalian carbonic anhydrases. Adv Genet 1992; 30: 321.
-
(1992)
Adv Genet
, vol.30
, pp. 321
-
-
Tashian, R.E.1
-
10
-
-
0029057703
-
Human carbonic anhydrases and carbonic anhydrase deficiencies
-
Sly WS, Hu PY. Human carbonic anhydrases and carbonic anhydrase deficiencies. Annu Rev Biochem 1995; 64: 375.
-
(1995)
Annu Rev Biochem
, vol.64
, pp. 375
-
-
Sly, W.S.1
Hu, P.Y.2
-
11
-
-
0021205613
-
Carbonic anhydrase in the human kidney: A histochemical and immunocytochemical study
-
Lonnerholm G, Wistrand PJ. Carbonic anhydrase in the human kidney: a histochemical and immunocytochemical study. Kidney Int 1984; 25: 886.
-
(1984)
Kidney Int
, vol.25
, pp. 886
-
-
Lonnerholm, G.1
Wistrand, P.J.2
-
12
-
-
0025488192
-
Ultrastructural localization of carbonic anhydrase II in subpopulations of intercalated cells of the rat kidney
-
Kim J, Tisher CC, Linser PJ, Madsen KM. Ultrastructural localization of carbonic anhydrase II in subpopulations of intercalated cells of the rat kidney. J Am Soc Nephrol 1990; 1: 245.
-
(1990)
J Am Soc Nephrol
, vol.1
, pp. 245
-
-
Kim, J.1
Tisher, C.C.2
Linser, P.J.3
Madsen, K.M.4
-
13
-
-
0018886806
-
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters
-
Whyte MP, Murphy WA, Fallon MD, et al. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 1980; 69: 64.
-
(1980)
Am J Med
, vol.69
, pp. 64
-
-
Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
-
14
-
-
0027995447
-
A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of arab descent
-
Fathallah DM, Bejaoui M, Sly WS, Lakhoua R, Dellagi K. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. Hum Genet 1994; 94: 581.
-
(1994)
Hum Genet
, vol.94
, pp. 581
-
-
Fathallah, D.M.1
Bejaoui, M.2
Sly, W.S.3
Lakhoua, R.4
Dellagi, K.5
-
15
-
-
0030972636
-
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
-
Hu P., Lim EJ, Ciccolella J, Strisciuglio P, Sly WS. Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat 1997; 9: 383.
-
(1997)
Hum Mutat
, vol.9
, pp. 383
-
-
Hu, P.1
Lim, E.J.2
Ciccolella, J.3
Strisciuglio, P.4
Sly, W.S.5
-
16
-
-
0029997986
-
Role of ion exchangers in mediating NaCl transport in the proximal tubule
-
Aronson PS. Role of ion exchangers in mediating NaCl transport in the proximal tubule. Kidney Int 1996; 49: 1665.
-
(1996)
Kidney Int
, vol.49
, pp. 1665
-
-
Aronson, P.S.1
-
17
-
-
0031711390
-
Roles of Na-K-2Cl and Na-Cl cotransporters and ROMK potassium channels in urinary concentrating mechanism
-
Hebert SC. Roles of Na-K-2Cl and Na-Cl cotransporters and ROMK potassium channels in urinary concentrating mechanism. Am J Physiol 1998; 275: F325.
-
(1998)
Am J Physiol
, vol.275
-
-
Hebert, S.C.1
-
18
-
-
0027379481
-
Gitelman versus classic Bartter syndrome
-
Stahl MM, Vaara I. Gitelman versus classic Bartter syndrome. J Pediatr 1993; 123: 671.
-
(1993)
J Pediatr
, vol.123
, pp. 671
-
-
Stahl, M.M.1
Vaara, I.2
-
19
-
-
0026580019
-
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
-
Lifton RP, Dluhy RG, Powers M, et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992; 355: 262.
-
(1992)
Nature
, vol.355
, pp. 262
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
-
20
-
-
0018598286
-
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
-
Ulick S, Levine LS, Gunczler P, et al. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab 1979; 49: 757.
-
(1979)
J Clin Endocrinol Metab
, vol.49
, pp. 757
-
-
Ulick, S.1
Levine, L.S.2
Gunczler, P.3
-
21
-
-
0029060080
-
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
-
Wilson RC, Krozowski ZS, Li K, et al. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995; 80: 2263.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2263
-
-
Wilson, R.C.1
Krozowski, Z.S.2
Li, K.3
-
22
-
-
0029954797
-
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess
-
Ferrari P, Obeyesekere VR, Li K, et al. Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol 1996; 119: 21.
-
(1996)
Mol Cell Endocrinol
, vol.119
, pp. 21
-
-
Ferrari, P.1
Obeyesekere, V.R.2
Li, K.3
-
23
-
-
0001182641
-
A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
-
Liddle GW, Bledsoe T, Coppage WSJ. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians 1963; 76: 199.
-
(1963)
Trans Am Assoc Physicians
, vol.76
, pp. 199
-
-
Liddle, G.W.1
Bledsoe, T.2
Coppage, W.S.J.3
-
24
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
-
Shimkets RA, Warnock DG, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994; 79: 407.
-
(1994)
Cell
, vol.79
, pp. 407
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
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