Associated Papers
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S et al.
Pediatric Nephrology (berlin, Germany), 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2019
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
Subasioglu Uzak A et al.
Renal Failure, 2013
Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?
Tsai HY et al.
Pediatric Nephrology (berlin, Germany), 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.
Gil H et al.
Pediatric Nephrology (berlin, Germany), 2007
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
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Karet FE et al.
Nature Genetics, 1999
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0
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