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Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; ... (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in genetics, 15(1355962) Frontiers Media SA 10.3389/fgene.2024.1355962
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
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 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
Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; ... (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of inherited metabolic disease, 40(2), pp. 171-176. Springer 10.1007/s10545-016-9990-5
