Results 171 to 180 of about 20,672 (234)

Identification of novel pathogenic mutations in <i>ATP6V0A4</i> associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease. [PDF]

Ren Fail
Jiang Y, Ren M, Gan C, Yang Q, Jiang H, Xiao H, Zhou X, Chen W, Yang X, Yang B, Chen Y, Wang M, Yang H, Jiang W, Li Q.   +14 more
europepmc   +1 more source

Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations. [PDF]

Dis Model Mech
Mungara P, MacNaughton K, Ullah AKMS, Essuman G, Chelangarimiyandoab F, Mumtaz R, Hennings JC, Hübner CA, Eladari D, Alexander RT, Cordat E.   +10 more
europepmc   +1 more source

Immune Checkpoint Inhibitor - Associated Renal Tubular Acidosis and Nephrogenic Diabetes Insipidus: A Case Report. [PDF]

Case Rep Nephrol Dial
Cohen I, Qormata L, Erman O, Vardi I, Mayan H, Mouallem M.   +5 more
europepmc   +1 more source

WDR72 Gene Variant Associated With Distal Renal Tubular Acidosis, Enuresis, Enamel Hypoplasia, Renal Cysts, and Renal Calculi: A Case Report. [PDF]

Cureus
Al-Omairi A, Alabbas A, Makki T, Al Saidi S, Alriyami M.   +4 more
europepmc   +1 more source

Phytate Effects on Incomplete Distal Renal Tubular Acidosis. [PDF]

J Clin Med
Guimerà J, Martínez A, Quetglas JLB, Sanchis P, Costa-Bauzá A, Pieras E, Grases F.   +6 more
europepmc   +1 more source

Pseudo-Renal Tubular Acidosis: Conditions Mimicking Renal Tubular Acidosis

Advances in Chronic Kidney Disease, 2018
Hyperchloremic metabolic acidosis, particularly renal tubular acidosis, can pose diagnostic challenges. The laboratory phenotype of a low total carbon dioxide content, normal anion gap, and hyperchloremia may be misconstrued as hypobicarbonatemia from renal tubular acidosis.
Jerry Yee
exaly   +5 more sources

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Kidney International, 2020
Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of ...
Tilman Jobst-Schwan, Verena Klämbt, Maureen Társio   +2 more
exaly   +3 more sources

Renal tubular acidosis: developments in our understanding of the molecular basis

International Journal of Biochemistry and Cell Biology, 2005
Renal tubular acidosis is a metabolic acidosis due to impaired acid excretion by the kidney. Hyperchloraemic acidosis with a normal anion gap and normal (or near normal) glomerular filtration rate, and in the absence of diarrhoea, defines this disorder ...
Ashley M Toye, Giovambattista Capasso, Robert J Unwin   +2 more
exaly   +2 more sources