Vitamin A responsive night blindness in Dent's disease. (Q47794303)

5 February 2018

title

Vitamin A responsive night blindness in Dent's disease. (English)

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5 February 2018

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Madhulika Kabra

3

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author name string

Sidharth Kumar Sethi

1

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5 February 2018

Michael Ludwig

2

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5 February 2018

Pankaj Hari

4

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5 February 2018

Arvind Bagga

5

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5 February 2018

publication date

15 May 2009

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5 February 2018

published in

Pediatric Nephrology

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5 February 2018

volume

24

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5 February 2018

issue

9

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5 February 2018

page(s)

1765-1770

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5 February 2018

https://scigraph.springernature.com/pub.10.1007/s00467-009-1198-6

exact match

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cites work

The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-009-1198-6

Evaluation of the Dade Behring Dimension RxL: integrated chemistry system-pediatric reference ranges

21 January 2018

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12 December 2020

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

1 reference

12 December 2020

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets

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12 December 2020

X-linked recessive nephrolithiasis with renal failure

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12 December 2020

The CLC chloride channel family

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12 December 2020

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

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12 December 2020

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

1 reference

12 December 2020

Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria

1 reference

12 December 2020

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.

1 reference

12 December 2020

Evidence for genetic heterogeneity in Dent's disease.

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12 December 2020

Low-molecular weight proteins as markers for glomerular filtration rate.

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

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

1 reference

12 December 2020

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

1 reference

12 December 2020

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

1 reference

12 December 2020

Phenotype and genotype of Dent's disease in three Korean boys

1 reference

12 December 2020

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

12 December 2020

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

1 reference

12 December 2020

10.1007/S00467-009-1198-6

Identifiers

DOI

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5 February 2018

PubMed ID

19444483

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5 February 2018