SCARPA, MAURIZIO
SCARPA, MAURIZIO
Dipartimento di Salute della Donna e del Bambino - SDB
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
2010 Picci, L; Cameran, M; Marangon, O; Marzenta, D; Ferrari, S; Frigo, ANNA CHIARA; Scarpa, Maurizio
A 3-year-old child with abdominal pain and fever
2005 Bonetto, G; Scarpa, Maurizio; Carraro, Silvia; Baraldi, Eugenio
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
2014 Gucciardi, Antonina; Legnini, Elisa; Di Gangi, Im; Corbetta, C; Tomanin, Rosella; Scarpa, Maurizio; Giordano, Giuseppe
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net
2021 Rossi, A.; Hoogeveen, I. J.; Lubout, C. M. A.; de Boer, F.; Fokkert-Wilts, M. J.; Rodenburg, I. L.; van Dam, E.; Grunert, S. C.; Martinelli, D.; Scarpa, M.; Dekker, H.; te Boekhorst, S. T.; van Spronsen, F. J.; Derks, T. G. J.; de Baere, L.; Bellettato, C.; Bosch, A. M.; Sallago, J. B.; Botto, L. D.; Brunner-Krainz, M.; Caroe, C.; Casswall, T.; Contreras Pulido, E. L.; Couce, M. L.; Dessein, A. -F.; Donati, M. A.; Eyskens, F.; Moura De Souza, C. F.; Fraile, P. Q.; Fuchs, S. A.; Gasperini, S.; Haas, D.; Hernandez, E. M.; Hochuli, M.; Hugon, A.; Karall, D.; Koeberl, D.; Labrune, P.; Lajic, S.; van Lingen, C.; Maiorana, A.; Mention, K.; Moenig, I.; Mohnike, K.; Montanari, C.; Nassogne, M. -C.; Parini, R.; Rahman, S.; Reyes, M.; Schwantje, M.; Skouma, A.; Strisciuglio, P.; Thiel, M.; Weinstein, D.; Ziagaki, A.
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
2014 Zanetti, Alessandra; Tomanin, Rosella; Rampazzo, Angelica; Rigon, Chiara; Gasparotto, Nicoletta; Cassina, Matteo; Clementi, Maurizio; Scarpa, Maurizio
A novel functional role of iduronate-2-sulfatase in zebrafish early development.
2010 Moro, Enrico; Tomanin, R; Friso, A; Modena, N; Tiso, Natascia; Scarpa, Maurizio; Argenton, Francesco
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
2015 Burton, Barbara K; Balwani, Manisha; Feillet, François; Barić, Ivo; Burrow, T. Andrew; Camarena Grande, Carmen; Coker, Mahmut; Consuelo Sánchez, Alejandra; Deegan, Patrick; Di Rocco, Maja; Enns, Gregory M; Erbe, Richard; Ezgu, Fatih; Ficicioglu, Can; Furuya, Katryn N; Kane, John; Laukaitis, Christina; Mengel, Eugen; Neilan, Edward G; Nightingale, Scott; Peters, Heidi; Scarpa, Maurizio; Schwab, K. Otfried; Smolka, Vratislav; Valayannopoulos, Vassili; Wood, Marnie; Goodman, Zachary; Yang, Yijun; Eckert, Stephen; Rojas Caro, Sandra; Quinn, Anthony G.
A PILOT SCREENING FOR CF CARRIERS IN THE NORTH EAST ITALIAN POPULATION
1993 Scarpa, Maurizio; Picci, L.; Camporese, C.; Bedin, S.; Anglani, Franca; Zacchello, F.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
2022 Wasserstein, M.; Lachmann, R.; Hollak, C.; Arash-Kaps, L.; Barbato, A.; Gallagher, R. C.; Giugliani, R.; Guelbert, N. B.; Ikezoe, T.; Lidove, O.; Mabe, P.; Mengel, E.; Scarpa, M.; Senates, E.; Tchan, M.; Villarrubia, J.; Chen, Y.; Furey, S.; Thurberg, B. L.; Zaher, A.; Kumar, M.
A rapid testing procedure for Fabry disease: alpha-galadosidase A assay in dried blood spots
2008 Gasparotto, Nicoletta; Tomanin, Rosella; Frigo, ANNA CHIARA; Pasquini, E; Donati, A; Niizawa, G; Blanco, M; Scarpa, Maurizio
Acid sphingomyelinase deficiency: A clinical and immunological perspective
2021 Pinto, C.; Sousa, D.; Ghilas, V.; Dardis, A.; Scarpa, M.; Macedo, M. F.
An international classification of inherited metabolic disorders (ICIMD)
2021 Ferreira, C. R.; Rahman, S.; Keller, M.; Zschocke, J.; Abdenur, J.; Ali, H.; Artuch, R.; Ballabio, A.; Barshop, B.; Baumgartner, M.; Bertini, E. S.; Blau, N.; Carelli, V.; Carroll, C.; Chinnery, P. F.; Christodoulou, J.; Cornejo, V.; Darin, N.; Derks, T.; Diodato, D.; Dionisi-Vici, C.; Duley, J. A.; Fukao, T.; Garcia-Cazorla, A.; Giugliani, R.; Goldstein, A.; Hoffmann, G.; Horvath, R.; Ibarra, I.; Inwood, A.; Jaeken, J.; Jimenez-Mallebrera, C.; Karaa, A.; Klopstock, T.; Kolker, S.; Kornblum, C.; Kozich, V.; Lamperti, C.; Larsson, N. -G.; Lemes, A.; Lewis, B.; Mancuso, M.; Mcfarland, R.; Mochel, F.; Montoya, J.; Morava, E.; Naess, K.; Okuyama, T.; Olry, A.; Paquis-Flucklinger, V.; Parikh, S.; Patterson, M.; Perez de Ferran, C.; Peters, V.; Prokisch, H.; Saada, A.; Salomons, G. S.; Saudubray, J. -M.; Scarpa, M.; Schara-Schmidt, U.; Schiff, M.; Servidei, S.; Smeitink, J.; Suomalainen, A.; Tangeraas, T.; Taylor, R. W.; Thiele, I.; Thorburn, D.; Van Hove, J.; Van der Ploeg, A. T.; Van Karnebeek, C.; Visser, G.; Vockley, J.; Wanders, R.; Webster, D.; Wedell, A.; Wiley, V.; Wredenberg, A.; Zeviani, M.
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry
2010 Legini, E; Orsini, Jj; Hung, C; Martin, M; Showers, A; Scarpa, Maurizio; Zhang, Xk; Keutzer, J; Mãœhl, A; Bodamer, Oa
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.
2011 Legini, E; Orsini, Jj; Hung, C; Martin, M; Showers, A; Scarpa, Maurizio; Zhang, Xk; Keutzer, J; Mühl, A; Bodamer, Oa
Antagonistic controls regulate copy number of the yeast 2 mu plasmid.
1987 Murray, Ja; Scarpa, Maurizio; Rossi, N; Cesareni, G.
Antiretroviral activity of furocoumarins plus UVA light detected by a replication-defective retrovirus
1994 Miolo, Giorgia; Tomanin, Rosella; DE ROSSI, Anita; Dall'Acqua, Francesco; Zacchello, Franco; Scarpa, Maurizio
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
2020 Giugliani, R.; Harmatz, P.; Lin, S. -P.; 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.
BBB Crossing in Lysosomal Storage Disorders: A Nanoparticle-Based Approach
2014 Rigon, Laura; Salvalaio, Marika; Tosi, Giovanni; Belletti, Daniela; D'Avanzo, Francesca; Ruozi, Barbara; Vandelli, Maria Angela; Forni, Flavio; Scarpa, Maurizio; Tomanin, Rosella
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
2011 Manara, R; Priante, E; Grimaldi, M; Santoro, L; Astarita, L; Barone, R; Concolino, D; DI ROCCO, M; Donati, Ma; Fecarotta, S; Ficcadenti, A; Fiumara, A; Furlan, F; Giovannini, I; Lilliu, F; Mardari, R; Polonara, G; Procopio, E; Rampazzo, A; Rossi, A; Sanna, G; Parini, R; Scarpa, Maurizio