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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's syndrome

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Date

2014

Authors

Klootwijk, Enriko D.
Reichold, Markus
Helip-Wooley, Amanda
Stanescu, Horia C.
Arcos-Burgos, Mauricio
Nonoguchi, Hiroshi
Reddy, Janardan K.
Gahl, William A.
Warth, Richard
Kleta, Robert

Journal Title

Journal ISSN

Volume Title

Publisher

Massachusetts Medical Society

Abstract

Background: In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain

Description

Keywords

Citation

URI

http://hdl.handle.net/1885/68812

Collections

ANU Research Publications

Source

New England Journal of Medicine

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1056/NEJMoa1307581

Restricted until

2037-12-31

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01_Klootwijk_Mistargeting_of_Peroxisomal_2014.pdf (899.61 KB)

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