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 und Kleta, Robert (2014) Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome. The New England Journal of Medicine 370, S. 129-138.

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Zusammenfassung

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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