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Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges Schumann, Anke; Garbade, Sven F.; Beblo, Skadi; Gautschi, Matthias; Haas, Dorothea; Hochuli, Michel; Hoffmann, Georg; May, Petra; Merkel, Martin; Scholl-Buergi, Sabine; Thimm, Eva; Weinhold, Natalie; Williams, Monika; Wortmann, Saskia; Gruenert, Sarah C. Share Save
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Ketogenic diet in adult patients with mitochondrial myopathy Zweers, Heidi E. E.; Kroesen, Sophie H.; Beerlink, Gijsje; Buit, Elke; Gerrits, Karlijn; Dorhout, Astrid; van Wegberg, Annemiek M. J.; Janssen, Mirian C. H.; Wortmann, Saskia B.; Timmers, Silvie; Saris, Christiaan G. J. Share Save
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun Share Save
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic Share Save
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear Knopfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R.; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B.; Konstantopoulou, Vassiliki; Huemer, Martina Share Save
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b Gruenert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Ciki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G. J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D. K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Cunha, Maria Veiga-da; Wortmann, Saskia B. Share Save
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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. Share Save
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger Share Save
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability Smith, Claire E. L.; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L.; Poulter, James A.; Wortmann, Saskia B.; Feichtinger, Rene G.; Mayr, Johannes A.; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C.; Watson, Christopher M.; Mansour, Sahar; Inglehearn, Chris F.; Mighell, Alan J.; Bloch-Zupan, Agnes Share Save
Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop Gruenert, Sarah C.; Derks, Terry G. J.; Mundy, Helen; Dalton, R. Neil; Donadieu, Jean; Hofbauer, Peter; Jones, Neil; Ucar, Sema Kalkan; LaFreniere, Jamas; Contreras, Enrique Landelino; Pendyal, Surekha; Rossi, Alessandro; Schneider, Blair; Spiegel, Ronen; Stepien, Karolina M.; Wesol-Kucharska, Dorota; Veiga-da-Cunha, Maria; Wortmann, Saskia B. Share Save
Response to Kulseth Vogel, Georg F.; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B. Share Save
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