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Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis

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 ...
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… DUCTALBUMIN CAUSES MITOCHONDRIAL DYSFUNCTION AND HYPERFUSION IN RENAL TUBULAR CELLSLACTIC ACIDOSIS IN METFORMIN-TREATED …

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] Importance of early audiologic assessment in distal renal tubular acidosis

[PDF] from dovepress.comAP Swayamprakasam, E Stover… - … Medical Case Reports …, 2011 - dovepress.com
© 2011 Swayamprakasam et al, publisher and licensee Dove Medical Press Ltd. This is an Open
Access article which permits unrestricted noncommercial use, provided the original work is properly
cited. ... Anand P Swayamprakasam1 elizabeth Stover1 elizabeth Norgett1 Katherine G ...
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[PDF] life-threatening hypokalaemic paralysis associated with distal renal tubular acidosis

[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 ...
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Renal Tubular Acidosis (RTA)

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 ...
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