Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's syndrome
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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
Description
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
| Collections | ANU Research Publications |
|---|---|
| Date published: | 2014 |
| Type: | Journal article |
| URI: | http://hdl.handle.net/1885/68812 |
| Source: | New England Journal of Medicine |
| DOI: | 10.1056/NEJMoa1307581 |
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| File | Description | Size | Format | Image |
|---|---|---|---|---|
| 01_Klootwijk_Mistargeting_of_Peroxisomal_2014.pdf | 899.61 kB | Adobe PDF | Request a copy |
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