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International Journal of Environmental Research and Public Health|March 29, 2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and ChallengesTakeya Adachi, Ayman W El-Hattab, Ritu Jain, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 30, 2008
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spotsNicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, et al.
Journal of Clinical Medicine|November 27, 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian PerspectiveGiancarlo Castaman, Silvia Linari, Antonio Barbato, et al.
The Journal of Gene Medicine|June 21, 2005
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblastsAdelaide Friso, Rosella Tomanin, Sabrina Alba, et al.
Cell Death & Disease|August 12, 2016
Glial degeneration with oxidative damage drives neuronal demise in MPSII diseaseCristina Zalfa, Chiara Verpelli, Francesca D'Avanzo, et al.
JIMD Reports|December 4, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome SurveyBarbara K Burton, Hernan Amartino, Roberto Giugliani, et al.
BMC Health Services Research|June 6, 2026
An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis IIKarolina M Stepien, Olulade Ayodele, Joseph Muenzer, et al.
European Journal of Pediatrics|February 28, 2019
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter studyAlessandra Zanetti, Francesca D'Avanzo, Laura Rigon, et al.
Molecular Genetics and Metabolism|May 11, 2020
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experienceAnnalisa Sechi, Daniela Macor, Serena Valent, et al.
BMC Medical Genomics|October 3, 2013
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatmentGianluigi Mazzoccoli, Rosella Tomanin, Tommaso Mazza, et al.
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