 | 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
Mengel, Eugen; Patterson, Marc C; Da Riol, Rosalia M; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Harmatz, Paul; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Havnsøe Torp Petersen, Nikolaj; Ingemann, Linda; Hansen, Thomas; ... (2021). Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. Journal of inherited metabolic disease, 44(6), pp. 1463-1480. Wiley 10.1002/jimd.12428
Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; ... (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), pp. 566-592. Wiley 10.1002/jimd.12370
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; ... (2021). Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 16(1), p. 246. BioMed Central 10.1186/s13023-021-01855-9
Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H T; Kirkegaard, Thomas; ... (2020). Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 15(1), p. 328. BioMed Central 10.1186/s13023-020-01616-0
