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Article

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2007

Gil Helena, Santos Fernando, García Enrique, Alvarez María Victoria, Ordóñez Flor A, Málaga Serafín, Coto Eliecer

Abstract excerpt

Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.33, serum bicarbonate 10.8-14.7 mEq/l, minimum urinary pH 6.5-7.1 and fractional excretion of bicarbonate in the presence of normal bicarbonatemia 1.1-5.7%. Growth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17216496
DOI: 10.1007/s00467-006-0417-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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