https://www.selleckchem.com/pr....oducts/defactinib.ht
Autosomal recessive forms of pseudohypoaldosteronism are caused by genetic defects in the epithelial sodium channel. Little is known about the long-term outcome and medication needs during childhood and adolescence. This study reports a single-centre experience of children affected with this ultra-rare condition over a 37-year period. We report the clinical presentation, growth, neuro-development, associated conditions, mortality and medication dosing and administration for 12 affected children from eight families. All children were
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