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
40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_3__ENaC_group_.xlsx › ENaC_group_n_54_
A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A et al.
American Journal of Physiology. Endocrinology and Metabolism, 2023
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z et al.
Archives of Endocrinology and Metabolism, 2023
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.
Alzahrani AS et al.
Journal of the Endocrine Society, 2021
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.
Willam A et al.
Frontiers in Pharmacology, 2017
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
Clinical and molecular features of type 1 pseudohypoaldosteronism.
Riepe FG
Hormone Research, 2009
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
Hanukoglu A et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2008
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
Edelheit O et al.
Clinical Endocrinology, 2005
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