Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure

Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure

Background 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.Methods We clinically and genetically characterized members of five families with autoso...

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Hlavní autoři: Reichold, M, Klootwijk, ED, Reinders, J, Otto, EA, Milani, M, Broeker, C, Laing, C, Wiesner, J, Devi, S, Zhou, W, Schmitt, R, Tegtmeier, I, Sterner, C, Doellerer, H, Renner, K, Oefner, PJ, Dettmer, K, Simbuerger, JM, Witzgall, R, Stanescu, HC, Dumitriu, S, Iancu, D, Patel, V, Mozere, M, Tekman, M, Jaureguiberry, G, Issler, N, Kesselheim, A, Walsh, SB, Gale, DP, Howie, AJ, Martins, JR, Hall, AM, Kasgharian, M, O'Brien, K, Ferreira, CR, Atwal, PS, Jain, M, Hammers, A, Charles-Edwards, G, Choe, C-U, Isbrandt, D, Cebrian-Serrano, A, Davies, B, Sandford, RN, Pugh, C, Konecki, DS, Povey, S, Bockenhauer, D, Lichter-Konecki, U, Gahl, WA, Unwin, RJ, Warth, R, Kleta, R
Médium: Journal article
Jazyk:English
Vydáno: American Society of Nephrology 2018

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