Associated Papers
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
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Daenen M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R et al.
Pediatric Nephrology (berlin, Germany), 2022
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.
Guo W et al.
Clinical Genetics, 2021
Inherited Renal Tubulopathies-Challenges and Controversies.
Iancu D et al.
Genes, 2020
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
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ et al.
Kidney International, 2018
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.
Gómez J et al.
Pediatric Research, 2016
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
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
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2006
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.
Ayoub EAM et al.
Jornal Brasileiro De Nefrologia, 0