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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's syndrome

Klootwijk, Enriko D; Reichold, Markus; Helip-Wooley, Amanda; Stanescu, Horia C.; Arcos-Burgos, Mauricio (Oscar); 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


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