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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S5
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
Clinical and molecular aspects of distal renal tubular acidosis in children.
Besouw MTP et al.
Pediatric Nephrology (berlin, Germany), 2017
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V et al.
Kidney International, 2017
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Nagara M et al.
Genetic Testing and Molecular Biomarkers, 2014
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
Elhayek D et al.
Bmc Medical Genetics, 2013
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
A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis.
Anupama PH et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0
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