Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini...

por Binkhorst, M., Wortmann, S. B., Funke, S., Kozicz, T., Wevers, R. A., Morava, E.
Publicado 2011

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia

por Paprocka, J, Rzepka-Migut, B, Rzepka, N, Jezela-Stanek, A, Morava, E
Publicado 2019

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction

por Schreuder, L. T. W., Nijhuis-van der Sanden, M. W. G., de Hair, A., Peters, G., Wortmann, S., Bok, L. A., Morava, E.
Publicado 2010

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

por Pascoal, C., Ferreira, I., Teixeira, C., Almeida, E., Slade, A., Brasil, S., Francisco, R., Ligezka, A. N., Morava, E., Plotkin, H., Jaeken, J., Videira, P. A., Barros, L., dos Reis Ferreira, V.
Publicado 2022