-
1
-
-
0345076154
-
Aldosterone insensitivity syndromes (pseudohypoaldosteronism): From clinic to molecular biology of sodium transport
-
Hanukoglu A., Saxena A., Hanukoglu I.: Aldosterone insensitivity syndromes (pseudohypoaldosteronism): from clinic to molecular biology of sodium transport, Endokryn. Pol. 2001, 4, supl. 1, 27-37.
-
(2001)
Endokryn. Pol.
, vol.4
, Issue.SUPPL. 1
, pp. 27-37
-
-
Hanukoglu, A.1
Saxena, A.2
Hanukoglu, I.3
-
2
-
-
0028910935
-
Pseudohypoaldosteronism: Evaluation of type I receptors by radioreceptor and by antireceptor antibodies
-
Armanini D. i in.: Pseudohypoaldosteronism: evaluation of type I receptors by radioreceptor and by antireceptor antibodies, Steroids 1995, 60, 161-163.
-
(1995)
Steroids
, vol.60
, pp. 161-163
-
-
Armanini, D.1
-
3
-
-
0028781727
-
Disorders of aldosterone biosenthesis and action
-
White P.C.: Disorders of aldosterone biosenthesis and action, N. Engl. J. Med. 1994, 331, 250-258.
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 250-258
-
-
White, P.C.1
-
4
-
-
0027058038
-
Steroidogenic enzymes: Structure, function, and role in regulation of steroid hormone biosynthesis
-
Hanukoglu I.: Steroidogenic enzymes: structure, function, and role in regulation of steroid hormone biosynthesis, J. Steroid. Biochem. Molec. Biol. 1992, 43, 779-804.
-
(1992)
J. Steroid. Biochem. Molec. Biol.
, vol.43
, pp. 779-804
-
-
Hanukoglu, I.1
-
5
-
-
0034819374
-
Trafficking and cell surface stability of EnaC
-
Rotin D., Kanelis V., Schild L.: Trafficking and cell surface stability of EnaC, Am. J. Physiol. Renal. Physiol. 2001, 281, 391-399.
-
(2001)
Am. J. Physiol. Renal. Physiol.
, vol.281
, pp. 391-399
-
-
Rotin, D.1
Kanelis, V.2
Schild, L.3
-
6
-
-
0035012297
-
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: Identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds
-
Viemann M. i in.: Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds, J. Clin. Endocrinol. Metab. 2001, 86, 2056-2059.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 2056-2059
-
-
Viemann, M.1
-
7
-
-
0034489575
-
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1
-
Tajima T. i in.: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1, J. Clin. Endocrinol. Metab. 2000, 85, 4690-4694.
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 4690-4694
-
-
Tajima, T.1
-
8
-
-
0033498876
-
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel
-
Schaedel i in.: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel, J. Pediatr. 1999, 135, 739-745.
-
(1999)
J. Pediatr.
, vol.135
, pp. 739-745
-
-
Schaedel1
-
9
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
-
Geller D.S. i in.: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I, Nat. Genet. 1998, 19, 279-281.
-
(1998)
Nat. Genet.
, vol.19
, pp. 279-281
-
-
Geller, D.S.1
-
10
-
-
0030772298
-
Pseudoaldosteronism: Mutation found, problem solved?
-
Kuhnle U.: Pseudoaldosteronism: mutation found, problem solved? Mol. Cell. Endocrinol. 1997, 133, 77-80.
-
(1997)
Mol. Cell. Endocrinol.
, vol.133
, pp. 77-80
-
-
Kuhnle, U.1
-
11
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type I
-
Chang S.S. i in.: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type I, Nat. Genet. 1996, 12, 248-253.
-
(1996)
Nat. Genet.
, vol.12
, pp. 248-253
-
-
Chang, S.S.1
-
12
-
-
0029864424
-
Mineralocorticoid resistance
-
Zennaro M.C.: Mineralocorticoid resistance, Steroids 1996, 61, 189-192.
-
(1996)
Steroids
, vol.61
, pp. 189-192
-
-
Zennaro, M.C.1
-
13
-
-
0029821077
-
The EnaC channel as the primary determinant of two human disease: Liddle syndrome and pseudohypoaldosteronism
-
Schild L.: The EnaC channel as the primary determinant of two human disease: Liddle syndrome and pseudohypoaldosteronism, Nephrologie 1996, 17, 395-400.
-
(1996)
Nephrologie
, vol.17
, pp. 395-400
-
-
Schild, L.1
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