Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. We clinically and genetically characterized members of five families with autosomal dominant renal...

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Veröffentlicht in:Journal of the American Society of Nephrology 2018-07, Vol.29 (7), p.1849-1858
Hauptverfasser: Reichold, Markus, Klootwijk, Enriko D, Reinders, Joerg, Otto, Edgar A, Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J, Dettmer, Katja, Simbuerger, Johann M, Witzgall, Ralph, Stanescu, Horia C, Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B, Gale, Daniel P, Howie, Alexander J, Martins, Joana R, Hall, Andrew M, Kasgharian, Michael, O'Brien, Kevin, Ferreira, Carlos R, Atwal, Paldeep S, Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N, Pugh, Christopher, Konecki, David S, Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A, Unwin, Robert J, Warth, Richard, Kleta, Robert
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Sprache:eng
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