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

by Herzog Andreas, Hartung Ralf, Reuser Arnold J J, Hermanns Pia, Runz Heiko, Karabul Nesrin, Gökce Seyfullah, Pohlenz Joachim, Kampmann Christoph, Lampe Christina, Beck Michael, Mengel Eugen
Published 2012-06-01

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

by Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E
Published 2011-11-01