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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Những tác giả chính:	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
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	American Society of Nephrology 2018

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

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