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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 ; Kleta, Robert



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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