نتایج جستجو برای: pseudohypoaldosteronism type 1
تعداد نتایج: 3647227 فیلتر نتایج به سال:
We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledg...
We analyze the scattering of the classical sine-Gordon breathers on a square potential well. We show that the scattering process depends not only on the vibration frequency of the breather and its incoming speed but also on its phase as well as the depth and width of the well. We show that the breather can pass through the well and exit with a speed different, sometimes larger, from the initial...
Secondary pseudohypoaldosteronism type 1 develops due to transient aldosterone resistance in renal tubules and is characterized by renal sodium loss, hyponatremia, hyperkalemia and high plasma aldosterone levels. Although many reasons are described, urinary tract infections and/or urinary tract anomalies are the most common causes. Although the cause of the tubular resistance is not known exact...
A novel <i>SCNN1A</i> variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1
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