(Q50354882)

6 March 2018

title

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis. (English)

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6 March 2018

author name string

Yanxia Gao

1

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6 March 2018

Yan Xu

2

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6 March 2018

Qingyang Li

3

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6 March 2018

Yanhua Lang

4

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6 March 2018

Qian Dong

5

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6 March 2018

Leping Shao

6

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6 March 2018

publication date

30 June 2014

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6 March 2018

published in

Renal Failure

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6 March 2018

volume

36

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6 March 2018

issue

8

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6 March 2018

page(s)

1226-1232

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6 March 2018

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

cites work

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Genetic causes and mechanisms of distal renal tubular acidosis.

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Distal renal tubular acidosis with hereditary spherocytosis

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

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

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

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

21 January 2018

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https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Calciuric response to an acute acid load in healthy subjects and hypercalciuric calcium stone formers.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Normal urinary calcium/creatinine ratios in African-American and Caucasian children

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Urinary calcium excretion in Chinese adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

Limitations of hearing screening in newborns with PDS mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2014.930332

10.3109/0886022X.2014.930332

21 January 2018

Identifiers

DOI

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6 March 2018

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6 March 2018