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Journal article

Dent's disease.

Abstract:

Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or ost...

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Publication status:
Published

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Publisher copy:
10.1186/1750-1172-5-28

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Journal:
Orphanet journal of rare diseases
Volume:
5
Issue:
1
Pages:
28
Publication date:
2010-01-01
DOI:
EISSN:
1750-1172
ISSN:
1750-1172
Source identifiers:
90771
Language:
English
Keywords:
Pubs id:
pubs:90771
UUID:
uuid:3a36da03-c5ef-4f5c-96fb-9fcaf9f3b115
Local pid:
pubs:90771
Deposit date:
2012-12-19

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