YF Lo, SS Yang, G Seki, H Yamada, S Horita… - Kidney …, 2011 - nature.com We have identified a novel homozygous nonsense mutation (W516X) in the kidney-type electrogenic sodium bicarbonate cotransporter 1 (NBC1) in a patient with isolated proximal renal tubular acidosis (pRTA). To specifically address the pathogenesis of this mutation, we created NBC1 ... Related articles - All 4 versions
HJ Choi, JS Lim, EJ Park, HJ Jung… - NDT …, 2011 - ndtplus.oxfordjournals.org INTRODUCTION AND AIMS: AQP2 is expressed in the apical plasma membrane and subapical vesicles in the collecting duct principal cells. Collecting duct water reabsorption in response to vasopressin is mediated by translocation of intracellular AQP2-bearing vesicles to the ...
[PDF] from njmonline.nlM Vendeloo, A Aarnoudse… - The Netherlands journal of …, 2011 - njmonline.nl Renal tubular acidosis (RTA) type I or distal RTA is a rare disorder consisting of a defect in renal regulation of acid-base balance and, consequently, in electrolyte excretion. The disease is generally asymptomatic and discovered upon the presence of a chronic, normal anion gap ... Related articles - View as HTML - All 4 versions
KW Perry - Chronic Complex Diseases of Childhood: A …, 2011 - books.google.com Renal Tubular Acidosis (RTA) Katherine Wesseling Perry Renal Tubular Acidosis (RTA) is defined as a metabolic acidosis that is due to the kidneys' failure to appropri- ately acidify the urine. Etiology RTA may occur from either a failure of the kidneys to reclaim bicarbonate in the proximal ... Related articles