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Journal of Inherited Metabolic Disease|July 12, 2011
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and managementElizabeth A Braunlin, Paul R Harmatz, Maurizio Scarpa, et al.Stem Cells and Development|June 20, 2008
High transduction efficiency of human amniotic fluid stem cells mediated by adenovirus vectorsDavide Grisafi, Martina Piccoli, Michela Pozzobon, et al.Orphanet Journal of Rare Diseases|June 29, 2022
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre studySimona Sestito, Giada Rinninella, Angelica Rampazzo, et al.Journal of Clinical Medicine|October 23, 2021
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD)Andrea Dardis, Eleonora Pavan, Martina Fabris, et al.Orphanet Journal of Rare Diseases|July 2, 2025
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome SurveyJoseph Muenzer, Hernan Amartino, Roberto Giugliani, et al.European Journal of Medical Genetics|June 9, 2024
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational studyEugen Mengel, Maurizio Scarpa, Nathalie Guffon, et al.International Journal of Molecular Sciences|July 14, 2023
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 TechnologyMaximiliano Emanuel Ormazabal, Eleonora Pavan, Emilio Vaena, et al.Gene|May 28, 2013
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequenceAna Carolina Brusius-Facchin, Luiza Abrahão, Ida Vanessa Doederlein Schwartz, et al.Journal of Inherited Metabolic Disease|November 16, 2012
Respiratory and sleep disorders in mucopolysaccharidosisKenneth I Berger, Simone C Fagondes, Roberto Giugliani, et al.Orphanet Journal of Rare Diseases|September 19, 2014
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 yearsRosella Tomanin, Alessandra Zanetti, Francesca D'Avanzo, et al.Pageof 15