Skip navigation
Skip navigation

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's syndrome

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


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

CollectionsANU Research Publications
Date published: 2014
Type: Journal article
Source: New England Journal of Medicine
DOI: 10.1056/NEJMoa1307581


File Description SizeFormat Image
01_Klootwijk_Mistargeting_of_Peroxisomal_2014.pdf899.61 kBAdobe PDF    Request a copy

Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  17 November 2022/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator