(Q48199696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25880437%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics (English)

1 reference

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5 March 2020

1 reference

7

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5 March 2020

Hiromi Ohtsubo

8

1 reference

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5 March 2020

Takeshi Ninchoji

9

1 reference

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5 March 2020

Shogo Minamikawa

10

1 reference

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5 March 2020

Tomohiko Yamamura

11

1 reference

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5 March 2020

Tomohiko Yamamura

12

1 reference

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5 March 2020

author name string

Natsuki Matsunoshita

1

1 reference

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5 March 2020

Kandai Nozu

2

1 reference

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5 March 2020

Akemi Shono

3

1 reference

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5 March 2020

Yoshimi Nozu

4

1 reference

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5 March 2020

Xue Jun Fu

5

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5 March 2020

Naoya Morisada

6

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5 March 2020

Koichi Nakanishi

13

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5 March 2020

Norishige Yoshikawa

14

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5 March 2020

Yuko Shima

15

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5 March 2020

Hiroshi Kaito

16

1 reference

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5 March 2020

Kazumoto Iijima

17

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5 March 2020

language of work or name

English

0 references

publication date

16 April 2015

1 reference

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5 March 2020

number of pages

9

1 reference

inferred from page(s)

published in

Genetics in Medicine

1 reference

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5 March 2020

volume

18

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5 March 2020

issue

2

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5 March 2020

page(s)

180-188

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2015.56

5 March 2020

exact match

0 references

cites work

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Salt wasting and deafness resulting from mutations in two chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Genetic basis of Bartter syndrome in Korea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Spectrum of mutations in Gitelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

A simple estimate of glomerular filtration rate in adolescent boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Revised equations for estimated GFR from serum creatinine in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Diminished creatinine clearance in anorexia nervosa: reversal with weight gain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Fluid restriction in anorexia nervosa: a neglected symptom or new phenomenon?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Hypokalaemic salt-losing tubulopathies: an evolving story

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Metabolic mimicry of Bartter's syndrome by covert vomiting: utility of urinary chloride determinations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.56

Kidney transplant in Gitelman's syndrome. Report of the first case.

21 January 2018

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations

1 reference

12 December 2020

A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine

1 reference

12 December 2020

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation

1 reference

12 December 2020

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome

1 reference

12 December 2020

Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome

1 reference

12 December 2020

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis

1 reference

12 December 2020

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2015.56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25880437%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference