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Journal of Pediatric Rehabilitation Medicine|July 28, 2011
Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case seriesMaurizio Scarpa, Ebba Buffone, Philipp La Marca, et al.Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|August 22, 2024
Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position StatementAnnalisa Sechi, Maria Letizia Urban, Elaine Murphy, et al.Orphanet Journal of Rare Diseases|March 5, 2022
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERNLaura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, et al.Orphanet Journal of Rare Diseases|October 5, 2017
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, et al.Acta Paediatrica (Oslo, Norway : 1992)|March 21, 2012
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseasesRosella Tomanin, Alessandra Zanetti, Eva Zaccariotto, et al.Journal of Medical Internet Research|February 9, 2026
Digital Health for Rare Diseases: A Scoping Review of Artificial Intelligence, Connected Care, and Enabling Digital Technologies for Lysosomal Storage DisordersAlberta M C Spreafico, Luca Neri, Kim Angel, et al.International Journal of Molecular Sciences|December 10, 2021
Acid Sphingomyelinase Deficiency: A Clinical and Immunological PerspectiveCarolina Pinto, Diana Sousa, Vladimir Ghilas, et al.Molecular Genetics and Metabolism Reports|October 18, 2021
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancyAnnalisa Sechi, Alessandro Vit, Claudio Avellini, et al.Matrix Biology : Journal of the International Society for Matrix Biology|September 19, 2009
A novel functional role of iduronate-2-sulfatase in zebrafish early developmentEnrico Moro, Rosella Tomanin, Adelaide Friso, et al.Brain & Development|January 23, 2014
Nocturnal frontal lobe epilepsy in mucopolysaccharidosisPaolo Bonanni, Anna Volzone, Giovanna Randazzo, et al.Pageof 15