Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()

por Papadopoulos, C., Papadimas, G.K., Michelakakis, H., Kararizou, E., Manta, P.
Publicado 2013

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports

por Vargiami, E, Papathanasiou, E, Batzios, S, Kyriazi, M, Dimitriou, E, Anastasiou, A, Michelakakis, H, Giese, A-K, Zafeiriou, DI
Publicado 2016

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

por Dardis, A., Michelakakis, H., Rozenfeld, P., Fumic, K., Wagner, J., Pavan, E., Fuller, M., Revel-Vilk, S., Hughes, D., Cox, T., Aerts, J.
Publicado 2022

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

por Paisiou, A., Rogalidou, M., Pons, R., Ioannidou, E., Dimakou, K., Papadopoulou, A., Vaz, F.M., Vessalas, G., Goorden, S.M.I., Roelofsen, J., Zoetekouw, A., Nieman, M.M., Dimitriou, E., Moraitou, M., Peristeri, I., Michelakakis, H., van Kuilenburg, A.B.P.
Publicado 2021

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

por van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J., van der Ploeg, A. T.
Publicado 2016