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Journal of Inherited Metabolic Disease|September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase DeficiencyMaurizio Scarpa, George A Diaz, Roberto Giugliani, et al.Orphanet Journal of Rare Diseases|February 19, 2021
U-IMD: the first Unified European registry for inherited metabolic diseasesThomas Opladen, Florian Gleich, Viktor Kozich, et al.Journal of Clinical Medicine|September 9, 2022
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)Derralynn A Hughes, Patrick Deegan, Pilar Giraldo, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 13, 2010
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometryElisa Legnini, Elisa Legini, Joseph J Orsini, et al.European Journal of Pediatrics|November 1, 2011
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensusJoseph Muenzer, Olaf Bodamer, Barbara Burton, et al.Plos One|May 27, 2016
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage DisordersMarika Salvalaio, Laura Rigon, Daniela Belletti, et al.Journal of Clinical Medicine|June 28, 2023
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158"Derralynn A Hughes, Patrick Deegan, Pilar Giraldo, et al.The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|February 27, 2024
Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD)Louis S Matza, Katie D Stewart, Marie Fournier, et al.ESC Heart Failure|April 30, 2020
Fabry cardiomyopathy: Gb3-induced auto-reactive panmyocarditis requiring heart transplantationAndrea Frustaci, Maurizio Scarpa, Rosalia Maria da Riol, et al.Circulation. Genomic and Precision Medicine|December 4, 2023
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening StudiesEmanuele Monda, Gaetano Diana, Francesca Graziani, et al.Pageof 15