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International Journal of Molecular Sciences|April 27, 2019
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA NanoparticlesLaura Rigon, Marika Salvalaio, Francesca Pederzoli, et al.Orphanet Journal of Rare Diseases|September 24, 2020
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, et al.Journal of Inherited Metabolic Disease|May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled studyChristian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.Journal of Inherited Metabolic Disease|October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.Molecular Genetics and Metabolism|November 13, 2025
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome SurveyJoseph Muenzer, Jaco Botha, Hernan Amartino, et al.Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.Scientific Reports|November 11, 2025
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosisGiuseppe Limongelli, Fabio De Iaco, Marta Mosca, et al.Orphanet Journal of Rare Diseases|October 27, 2023
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyondAntonio Toscano, Olimpia Musumeci, Michele Sacchini, et al.Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.International Journal of Neonatal Screening|April 24, 2023
Newborn Screening in a Pandemic-Lessons LearnedMatej Mlinaric, James R Bonham, Viktor Kožich, et al.Pageof 15