Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

by Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan
Published 2019-07-01

Retinal hyperreflective foci in Fabry disease

by Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz
Published 2019-12-01

Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

by Jefferson Loso, Natalie Lund, Maxim Avanesov, Nicole Muschol, Susanne Lezius, Kathrin Cordts, Kathrin Cordts, Edzard Schwedhelm, Edzard Schwedhelm, Monica Patten, Monica Patten
Published 2018-08-01

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

by Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz
Published 2019-09-01

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T

by Tim Godel, Katharina v. Cossel, Reinhard E. Friedrich, Markus Glatzel, Sima Canaan-Kühl, Thomas Duning, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Nicole Muschol, Victor-Felix Mautner
Published 2020-11-01

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

by Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold
Published 2017-07-01