(Q84640944)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

growth hormone deficiency

9 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Radovan Bogdanović

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Alma Toromanović

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maja Dordević

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Natasa Stajić

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Michael Ludwig

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

1 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

2363-2368

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20680351%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-010-1615-x

9 February 2020

exact match

0 references

cites work

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

1 reference

12 December 2020

Growth hormone improves growth rate and preserves renal function in Dent disease.

1 reference

12 December 2020

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

1 reference

12 December 2020

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

1 reference

12 December 2020

Genetic causes of hypercalciuric nephrolithiasis

1 reference

12 December 2020

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

1 reference

12 December 2020

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

1 reference

12 December 2020

Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

1 reference

12 December 2020

Bartter's syndrome and tubular functional disturbances

1 reference

12 December 2020

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

1 reference

12 December 2020

X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations

1 reference

12 December 2020

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

1 reference

12 December 2020

Dent-2 disease: a mild variant of Lowe syndrome

1 reference

12 December 2020

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

1 reference

12 December 2020

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1

1 reference

12 December 2020