Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alte...
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
About this item
Full title
Author / Creator
Vylet'al, P , Hůlková, H , Živná, M , Berná, L , Novák, P , Elleder, M and Kmoch, S
Publisher
Dordrecht: Dordrecht : Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Dordrecht : Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Uromodulin (UMOD) malfunction has been found in a range of autosomal dominant tubulointerstitial nephropathies associated with hyperuricaemia, gouty arthritis, medullary cysts and renal failure—labelled as familial juvenile hyperuricaemic nephropathy, medullary cystic disease type 2 and glomerulocystic kidney disease. To gain knowledge of the spect...
Alternative Titles
Full title
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69430361
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69430361
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-008-0900-3
