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  1. 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; [...]

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

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    Ovid Technologies (Wolters Kluwer Health), 2018

    Published in: Journal of the American Society of Nephrology

  2. Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; [...]

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

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    S. Karger AG, 2013

    Published in: Nephron Physiology