Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

Pediatric nephrology (Berlin, Germany) - 1 Oct 2011

Tsai Hsin-Yun, Lin Shih-Hua, Lin Chun-Chen, Huang Fu-Yuan, Lee Ming-Dar, Tsai Jeng-Daw

Abstract excerpt

We try to explain why hypercalciuria is absent at diagnosis in some children with an ATP6V1B1 mutation. A 5-month-old girl presented with distal renal tubular acidosis (dRTA) and sensorineural hearing loss. Direct sequencing of the ATP6V1B1 genes disclosed a new homozygous mutation (452 delT) in exon 13. In particular, an absence of hypercalciuria and a normal level of parathyroid hormones were noted. After...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acidosis, Renal Tubular
Share to Calcium
Share to Creatinine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Hypercalciuria

Share to Nephrocalcinosis

Share to Ultrasonography

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 21614596
DOI: 10.1007/s00467-011-1918-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?PMID 21614596Read ↗

Clinical and molecular aspects of distal renal tubular acidosis in children.Semantic proximity Read ↗

Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.Semantic proximity Read ↗

A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia.Semantic proximity Read ↗

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.Semantic proximity Read ↗

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.Semantic proximity Read ↗

Renal tubular acidosisSemantic proximity Read ↗

Atypical presentation of distal renal tubular acidosis in two siblings.Semantic proximity Read ↗

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican familiesSemantic proximity Read ↗

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.Semantic proximity Read ↗

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.Semantic proximity Read ↗

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.Semantic proximity Read ↗

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.