Ocular signs correlate well with disease severity and genotype in Fabry disease.

by Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Sylvain Larroque, Michael Beck, Andreas Gal
Published 2015-01-01

Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment.

by Michael Frohbergh, Yi Ge, Fanli Meng, Nesrin Karabul, Alexander Solyom, Alon Lai, James Iatridis, Edward H Schuchman, Calogera M Simonaro
Published 2014-01-01

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

by Florian B. Lagler, Angelika Moder, Marianne Rohrbach, Julia Hennermann, Eugen Mengel, Seyfullah Gökce, Thomas Hundsberger, Kai M. Rösler, Nesrin Karabul, Martina Huemer
Published 2019-09-01