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Zeitschriftenartikel
Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra und Wortmann, Saskia B.
(2022):
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
In: Genetics in Medicine, Bd. 24, Nr. 8: S. 1781-1788
Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Montfrans, Joris van; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D.; Rosenzweig, Sergio; Grimbacher, Bodo; Veerdonk, Frank L. van de; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne; Cypowyj, Sophie; Thumerelle, Caroline; Toulon, Antoine; Bustamante, Jacinta; Tahuil, Natalia; Salhi, Aicha; Boiu, Sorina; Chopra, Charu; Di Giovanni, Daniela; Bezrodnik, Liliana; Boutros, Jeannette; Thomas, Caroline; Lacuesta, Gina; Jannier, Sarah; Korganow, Anne-Sophie; Paillard, Catherine; Boutboul, David; Bue, Melanie; Marie-Cardine, Aude; Bayart, Sophie; Migaud, Melanie; Weiss, Laurence; Karmochkine, Marina; Garcia-Martinez, Juan-Miguel; Stephan, Jean-Louis; Bensaid, Philippe; Jaennoel, Guy-Patrick; Witte, Torsten; Baumann, Ulrich; Harrer, Thomas; Navarrete, Carmen; Benjamin, Antony Terance; Firinu, Davide; Pignata, Claudio; Picco, Paolo; Mendoza, David; Reyes, Saul Oswaldo Lugo; Lozano, Carlos Torres; Ortega-Cisneros, Margarita; Cortina, Mariana; Mesdaghi, Mehrnaz; Nabavi, Mohammad; Espanol, Teresa; Martinez-Saavedra, Maia Teresa; Rezaei, Nima; Zoghi, Samaneh; Pac, Malgorzata; Barlogis, Vincent; Revon-Riviere, Gabriel; Haimi-Cohen, Yishai; Spiegel, Ronen; Miron, Dan; Bouchaib, Jabir; Blancas-Galicia, Lizbeth; Toth, Beata; Drexel, Barbara; Rohrlich, Pierre Simon; Lesens, Olivier; Hoernes, Miriam; Drewe, Elizabeth; Abinum, Mario; Sawalle-Belohradsky, Julie; Kindle, Gerhard; Depner, Mark; Milani, Lili; Nikopensius, Tiit; Remm, Maido; Talas, Ulvi Gerst; Tucker, Mark; Willis, Mary; Leonard, Stephanie; Meuwissen, Hilaire; Ferdman, Ronald M.; Wallace, Mark; Desai, Mukesh M.; Taur, Prasad; Badolato, Raffaele; Soltesz, Beata; Schnopp, Christina; Jansson, Annette F.; Ayvaz, Deniz; Shabashova, Nadejda; Chernyshova, Liudmyla; Bondarenko, Anastasia; Moshous, Despina; Neven, Benedicte; Boubidi, Chahinez; Ailal, Fatima; Giardino, Giuliana; Del Giacco, Stefano; Bougnoux, Marie-Elisabeth; Imai, Kohsuke; Okawa, Teppei; Mizoguchi, Yoko; Ozaki, Yusuke; Takeuchi, Masato; Hayakawa, Akira; Logering, Birgit; Reich, Kristian; Buhl, Timo; Eyerich, Kilian; Schaller, Martin; Arkwright, Peter D.; Gennery, Andrew R.; Cant, Andrew J.; Warris, Adilia; Henriet, Stefanie; Mekki, Najla; Barbouche, Ridha; Ben Mustapha, Imen; Bodemer, Christine; Polak, Michel; Grimprel, Emmanuel; Burgel, Pierre-Regis; Fischer, Alain; Hermine, Olivier; Debre, Marianne; Kocacyk, Dilara; Dhalla, Fatima; Patel, Smita Y.; Moens, Leen; Haerynck, Filomeen; Dullaers, Melissa; Hoste, Levi; Sanal, Ozden; Kilic, Sara Sebnem; Roesler, Joachim; Lanternier, Fanny; Lortholary, Olivier; Fieschi, Claire; Church, Joseph A.; Roifman, Chaim; Yuenyongviwat, Araya; Peterson, Part; Boisson-Dupuis, Stephanie; Abel, Laurent; Marciano, Beatriz E. und Netea, Mihai G.
(2016):
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
In: Blood, Bd. 127, Nr. 25: S. 3154-3164