Associated Papers
Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.
Nakata Y et al.
Journal of Clinical Medicine, 2025
Clinical features and molecular basis of pseudohypoaldosteronism type 1.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.
Adachi M et al.
Clinical and Experimental Nephrology, 2010
Molecular pathogenesis of renal pseudohypoaldosteronism type 1.
Riepe FG
Expert Review of Endocrinology & Metabolism, 2007
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Mineralocorticoid resistance.
Zennaro MC et al.
Trends in Endocrinology and Metabolism: Tem, 2004
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
Sartorato P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.
Riepe FG et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0