 | Up a level |
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
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4
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
Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
