Article
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology : JASN - 1 Jul 2018
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
Abstract excerpt
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 autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, sequencing, and...
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