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
Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.
Chantzaras AP et al.
Paediatric Respiratory Reviews, 2025
Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.
Alquraishi A et al.
Cureus, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
Usha Devi R et al.
European Journal of Medical Genetics, 2021
Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone.
Shabbir W et al.
European Journal of Pharmacology, 2021
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
Bandhakavi M et al.
European Journal of Endocrinology, 2021
Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism.
Boggula VR et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2018
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.
Nur N et al.
Case Reports in Pediatrics, 2017
Aldosterone resistance: structural and functional considerations and new perspectives.
Zennaro MC et al.
Molecular and Cellular Endocrinology, 2012
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.
Edelheit O et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2010
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
Pseudohypoaldosteronisms, report on a 10-patient series.
Belot A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008