Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference39 articles.
1. Dehydration and acidosis with calcification at renal tubules;Butler;J Pediatr,1936
2. Renal tubular acidosis: the clinical entity;Rodríguez Soriano;J Am Soc Nephrol,2002
3. Renal tubular acidosis;Gil-Peña;J Pediatr,2014
4. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness;Karet;Nat Genet,1999
5. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing;Smith;Nat Genet,2000
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