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Maissen-Abgottspon, Stephanie; Muri, Raphaela; Hochuli, Michel; Reismann, Péter; Barta, András Gellért; Alptekin, Ismail Mucahit; Hermida-Ameijeiras, Álvaro; Burlina, Alessandro P; Burlina, Alberto B; Cazzorla, Chiara; Carretta, Jessica; Trepp, Roman; Everts, Regula (2023). Health-related quality of life in a european sample of adults with early-treated classical PKU. Orphanet journal of rare diseases, 18(1), p. 300. BioMed Central 10.1186/s13023-023-02917-w
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
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
