A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Autor: Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J. J., Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, G�kce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen

Publikováno v: Orphanet Journal of Rare Diseases; 2012, Vol. 7 Issue 1, p35-48, 14p, 1 Diagram, 5 Charts, 4 Graphs