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Grünert, Sarah C; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Çıki, 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; ... (2024). Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Molecular genetics and metabolism, 142(2), p. 108486. Elsevier 10.1016/j.ymgme.2024.108486
Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2024). Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology, 79(5), pp. 1075-1087. Wiley 10.1097/HEP.0000000000000684
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z
van Erven, Britt; Berry, Gerard T; Cassiman, David; Connolly, Geraldine; Forga, Maria; Gautschi, Matthias; Gubbels, Cynthia S; Hollak, Carla E M; Janssen, Mirian C; Knerr, Ina; Labrune, Philippe; Langendonk, Janneke G; Õunap, Katrin; Thijs, Abel; Vos, Rein; Wortmann, Saskia B; Rubio-Gozalbo, M Estela (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and sterility, 108(1), pp. 168-174. Elsevier 10.1016/j.fertnstert.2017.05.013
