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Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

Klootwijk, Enriko D., Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven, Reinders, Jörg, Peindl, Dominika Elisabeth, Renner, Kathrin, Eberhart, Karin, Aßmann, Nadine, Oefner, Peter J., Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W., Stanescu, Horia C., Bockenhauer, Detlef, Jaureguiberry, Gracian, Courtneidge, Holly, Hall, Andrew M., Wijeyesekera, Anisha, Holmes, Elaine, Nicholson, Jeremy K., O´Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M., Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K., Ilya, Mohammad, Unwin, Robert J., Gahl, William A., Warth, Richard and Kleta, Robert (2014) Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome. The New England Journal of Medicine 370, pp. 129-138.

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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 unknown. METHODS: We clinically and genetically characterized members of a five-generation black family with isolated autosomal dominant ...

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Item type:Article
Date:January 2014
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Identification Number:
ValueType
10.1056/NEJMoa1307581DOI
24401050PubMed ID
Dewey Decimal Classification:500 Science > 500 Natural sciences & mathematics
500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:30493
Owner only: item control page
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