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Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia,...

Journal Title: Renal Failure 01 June 2014, Vol.36(5), pp.808-810
Main Author: Kose, Engin
Other Authors: Sirin Kose, Seda , Alparslan, Caner , Kasap Demir, Belde , Berdeli, Afig , Mutlubas Ozsan, Fatma , Yavascan, Onder , Aksu, Nejat
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0886-022X ; E-ISSN: 1525-6049 ; DOI: 10.3109/0886022X.2014.890055
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title: Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report
format: Article
creator:
  • Kose, Engin
  • Sirin Kose, Seda
  • Alparslan, Caner
  • Kasap Demir, Belde
  • Berdeli, Afig
  • Mutlubas Ozsan, Fatma
  • Yavascan, Onder
  • Aksu, Nejat
subjects:
  • Atp6v0a4 Gene
  • Childhood
  • Distal Renal Tubular Acidosis
  • Early-Onset Sensorineural Hearing Loss
  • Val2ala Mutation
  • Medicine
ispartof: Renal Failure, 01 June 2014, Vol.36(5), pp.808-810
description: A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia,...
language: eng
source:
identifier: ISSN: 0886-022X ; E-ISSN: 1525-6049 ; DOI: 10.3109/0886022X.2014.890055
fulltext: fulltext_linktorsrc
issn:
  • 0886-022X
  • 0886022X
  • 1525-6049
  • 15256049
url: Link


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titleVal2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report
creatorKose, Engin ; Sirin Kose, Seda ; Alparslan, Caner ; Kasap Demir, Belde ; Berdeli, Afig ; Mutlubas Ozsan, Fatma ; Yavascan, Onder ; Aksu, Nejat
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subjectAtp6v0a4 Gene ; Childhood ; Distal Renal Tubular Acidosis ; Early-Onset Sensorineural Hearing Loss ; Val2ala Mutation ; Medicine
descriptionA young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia,...
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A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia,...

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doi10.3109/0886022X.2014.890055
urlhttp://www.tandfonline.com/doi/abs/10.3109/0886022X.2014.890055
lad01Renal Failure
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date2014-06-01