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

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

Publikováno v: Journal of the American Society of Nephrology 29(7), 1849-1858 (2018). doi:10.1681/ASN.2017111179
Journal of the American Society of Nephrology 29 (2018): 1849–1858. doi:10.1681/ASN.2017111179
info:cnr-pdr/source/autori: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 CU, 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/titolo:Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure/doi:10.1681%2FASN.2017111179/rivista:Journal of the American Society of Nephrology/anno:2018/pagina_da:1849/pagina_a:1858/intervallo_pagine:1849–1858/volume:29

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baaa6ddb5c84630d07d85e382ece0673
https://doi.org/10.1681/asn.2017111179