Associated Papers
Distal renal tubular acidosis triggered by clozapine in a patient with a heterozygous ATP6V0A4 c.1029 + 5G > A variant: a case report and literature review.
Kumagai T et al.
Bmc Nephrology, 2025
Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Thakare S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Hypokalemic Distal Renal Tubular Acidosis.
Vallés PG et al.
Advances in Chronic Kidney Disease, 2018
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
Watanabe T
Pediatric Health, Medicine and Therapeutics, 2018
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Yamamura T et al.
Bmc Nephrology, 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Gómez J et al.
Pediatric Research, 2016
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
Kose E et al.
Renal Failure, 2014
Genetic causes and mechanisms of distal renal tubular acidosis.
Batlle D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Importance of early audiologic assessment in distal renal tubular acidosis.
Swayamprakasam AP et al.
International Medical Case Reports Journal, 2011
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
Andreucci E et al.
Pediatric Nephrology (berlin, Germany), 2009
Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.
Su Y et al.
American Journal of Physiology. Renal Physiology, 2008
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH et al.
Journal of Medical Genetics, 2002