Walking delay as leading symptom in late-onset Pompe disease

Por Gökce, S, Karabul, N, Herzog, A, Mengel, E
Publicado em 2013

Cytokines in treated and untreated Pompe patients

Por Karabul, N, Gökce, S, Kirchner, M, Mannhardt, W, Mengel, E
Publicado em 2013

PReS-FINAL-2244: Ultrasound examination reveals typical alterations in joints of mucopolysaccharidosis (MPS) patients

Por Karabul, N, Beck, M, Solyom, A, Mengel, E, Lampe, C
Publicado em 2013

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Por Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
Publicado no JIMD Rep (2015)

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 no Orphanet J Rare Dis (2016)