Associated Papers
Etiology and outcomes of primary renal tubular acidosis.
Priyadarshini S et al.
Pediatric Nephrology (berlin, Germany), 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1
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
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J et al.
Molecular Genetics & Genomic Medicine, 2019
30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_
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
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