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JIMD Reports|November 19, 2013
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) GeneAlessandra Zanetti, Neslihan Onenli-Mungan, Nursel Elcioglu, et al.Advances in Therapy|February 16, 2026
Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc AnalysisWim A Wuyts, Francesco Bonella, Maurizio Scarpa, et al.International Journal of Molecular Sciences|June 2, 2021
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier TestStefania Zampieri, Silvia Cattarossi, Eleonora Pavan, et al.Metabolic Brain Disease|June 4, 2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progressionFederica Deodato, Elena Procopio, Angelica Rampazzo, et al.Journal of Inherited Metabolic Disease|November 21, 2024
Development of a novel tool for individual treatment trials in mucopolysaccharidosisAnna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.Journal of Inherited Metabolic Disease|January 7, 2010
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolutionRenzo Manara, Angelica Rampazzo, Mara Cananzi, et al.International Journal of Molecular Sciences|June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 DysfunctionsEleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.Pharmaceutics|November 25, 2023
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.Pharmaceutics|May 27, 2023
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in MucopolysaccharidosisAnna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.Journal of Community Genetics|March 18, 2021
European Reference Networks: challenges and opportunitiesBirute Tumiene, Holm Graessner, Irene Mj Mathijssen, et al.Pageof 15