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
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.
Willam A et al.
Frontiers in Pharmacology, 2017
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.
Nur N et al.
Case Reports in Pediatrics, 2017
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
Dirlewanger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2011
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