Sfoglia per Autore
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD)
2021 Dardis, A.; Pavan, E.; Fabris, M.; Da Riol, R. M.; Sechi, A.; Fiumara, A.; Santoro, L.; Ormazabal, M.; Milanic, R.; Zampieri, S.; Biasizzo, J.; Scarpa, M.
Acid sphingomyelinase deficiency: A clinical and immunological perspective
2021 Pinto, C.; Sousa, D.; Ghilas, V.; Dardis, A.; Scarpa, M.; Macedo, M. F.
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
2021 Stepien, K. M.; Kiec-Wilk, B.; Lampe, C.; Tangeraas, T.; Cefalo, G.; Belmatoug, N.; Francisco, R.; del Toro, M.; Wagner, L.; Lauridsen, A. -G.; Sestini, S.; Weinhold, N.; Hahn, A.; Montanari, C.; Rovelli, V.; Bellettato, C. M.; Paneghetti, L.; van Lingen, C.; Scarpa, M.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
2021 Brennenstuhl, H.; Nashawi, M.; Schroter, J.; Baronio, F.; Beedgen, L.; Gleich, F.; Jeltsch, K.; von Landenberg, C.; Martini, S.; Simon, A.; Thiel, C.; Tsiakas, K.; Opladen, T.; Kolker, S.; Hoffmann, G. F.; Haas, D.; Garcia-Cazorla, A.; Dionisi-Vici, C.; Martinelli, D.; Kozich, V.; Scarpa, M.
The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys
2020 Lampe, C.; Dionisi-Vici, C.; Bellettato, C. M.; Paneghetti, L.; van Lingen, C.; Bond, S.; Brown, C.; Finglas, A.; Francisco, R.; Sestini, S.; Heard, J. M.; Scarpa, M.
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
2020 Heard, J. -M.; Vrinten, C.; Schlander, M.; Bellettato, C. M.; Van Lingen, C.; Scarpa, M.; Matthijs, G.; Nassogne, M. -C.; Debray, F. -G.; Roland, D.; Chamova, T.; Kozich, V.; Pavel, J.; Zenker, M.; Lampe, C.; Das, A. M.; Hennermann, J.; Kolker, S.; Weinhold, N.; Mohnike, K.; Gruenert, S.; Lund, A. M.; Morales-Conejo, M.; Del Toro-Riera, M.; Aldamiz-Echevarria, L.; Garcia-Silva, M. -T.; Schiff, M.; Gouya, L.; De Lonlay, P.; Belmatoug, N.; Germain, D. P.; Cano, A.; Dobbelaere, D.; Jones, S.; Dawson, C.; Deegan, P.; Santra, S.; Vijay, S.; Petkovic Ramadza, D.; Baric, I.; Zigman, T.; Pflieger, G.; Szakszon, K.; Kaposta, R.; Gasperini, S.; Burlina, A.; Parenti, G.; Strisciuglio, P.; Ceccarini, G.; Federico, A.; Simonati, A.; Tumiene, B.; Huidekoper, H.; Van Spronsen, F.; Bosch, A.; Rubio-Gozalbo, M. -E.; Visser, G.; Tangeraas, T.; Aarsand, A.; Kiec-Wilk, B.; Mendes Gaspar, A. -M. S.; Quelhas, D.; Leao-Teles, E.; Azevedo, O.; Rodriges Silva, E. -M. F.; De Abreu Freire, L. -M. D. M.; Martins, E.; Lajic, S.; Darin, N.; Groselj, U.; Tansek, M. -Z.
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
2020 Giugliani, R.; Harmatz, P.; Lin, S. -P.; Scarpa, M.
Parkinson's disease in Gaucher disease patients: What's changing in the counseling and management of patients and their relatives?
2020 Di Rocco, M.; Di Fonzo, A.; Barbato, A.; Cappellini, M. D.; Carubbi, F.; Giona, F.; Giuffrida, G.; Linari, S.; Pession, A.; Quarta, A.; Scarpa, M.; Spada, M.; Strisciuglio, P.; Andria, G.
Fabry cardiomyopathy: Gb3-induced auto-reactive panmyocarditis requiring heart transplantation
2020 Frustaci, A.; Scarpa, M.; Maria da Riol, R.; Agrati, C.; Finato, N.; Verardo, R.; Grande, C.; Chimenti, C.; Di Nora, C.; Russo, M. A.; Livi, U.
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience
2020 Sechi, A.; Macor, D.; Valent, S.; Da Riol, R. M.; Zanatta, M.; Spinelli, A.; Bianchi, K.; Bertossi, N.; Dardis, A.; Valent, F.; Scarpa, M.
Recommendations for the management of MPS VI: Systematic evidence- and consensus-based guidance
2019 Akyol, M. U.; Alden, T. D.; Amartino, H.; Ashworth, J.; Belani, K.; Berger, K. I.; Borgo, A.; Braunlin, E.; Eto, Y.; Gold, J. I.; Jester, A.; Jones, S. A.; Karsli, C.; Mackenzie, W.; Marinho, D. R.; Mcfadyen, A.; Mcgill, J.; Mitchell, J. J.; Muenzer, J.; Okuyama, T.; Orchard, P. J.; Stevens, B.; Thomas, S.; Walker, R.; Wynn, R.; Giugliani, R.; Harmatz, P.; Hendriksz, C.; Scarpa, M.
Targeting brain disease in MPSII: Preclinical evaluation of IDS-loaded PLGA nanoparticles
2019 Rigon, Laura; Salvalaio, Marika; Pederzoli, Francesca; Legnini, Elisa; Duskey, Jason Thomas; D'Avanzo, Francesca; De Filippis, Concetta; Ruozi, Barbara; Marin, Oriano; Vandelli, Maria Angela; Ottonelli, Ilaria; Scarpa, Maurizio; Tosi, Giovanni; Tomanin, Rosella
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
2019 Zanetti, A.; D'Avanzo, F.; Rigon, L.; Rampazzo, A.; Concolino, D.; Barone, R.; Volpi, N.; Santoro, L.; Lualdi, S.; Bertola, F.; Scarpa, M.; Tomanin, R.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
2018 Tylki-Szymańska, A; De Meirleir, L; Di Rocco, M; Fathalla, Wm; Guffon, N; Lampe, C; Lund, Am; Parini, R; Wijburg, Fa; Zeman, J; Scarpa, M
Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases
2018 Bellettato, Cm; Hubert, L; Scarpa, M; Wangler, Mf.
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model
2017 Salvalaio, Marika; D’Avanzo, Francesca; Rigon, Laura; Zanetti, Alessandra; D’Angelo, Michela; Valle, Giorgio; Scarpa, Maurizio; Tomanin, Rosella
Treatment of brain disease in the mucopolysaccharidoses
2017 Scarpa, Maurizio; Orchard, Paul J.; Schulz, Angela; Dickson, Patricia I.; Haskins, Mark E.; Escolar, Maria L.; Giugliani, Roberto
Epilepsy in mucopolysaccharidosis disorders
2017 Scarpa, Maurizio; Lourenço, Charles Marques; Amartino, Hernán
The ethical framework for performing research with rare inherited neurometabolic disease patients
2017 Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D'Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cortès Saladelafont, Elisenda; Cazorla, Ángels Garcia; Barić, Ivo; Cvitanović Šojat, Ljerka; Fumić, Ksenija; Dali, Christine I; Bartoloni, Franco; Bonifazi, Fedele; Scarpa, Maurizio; Ceci, Adriana
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
2017 Muenzer, Joseph; Giugliani, Roberto; Scarpa, Maurizio; Tylki-Szymańska, Anna; Jego, Virginie; Beck, Michael
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