SCARPA, MAURIZIO
SCARPA, MAURIZIO
Dipartimento di Salute della Donna e del Bambino - SDB
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
2024 Parenti, G.; Fecarotta, S.; Alagia, M.; Attaianese, F.; Verde, A.; Tarallo, A.; Gragnaniello, V.; Ziagaki, A.; Guimaraes, M. J.; Aguiar, P.; Hahn, A.; Azevedo, O.; Donati, M. A.; Kiec-Wilk, B.; Scarpa, M.; Van Der Beek, N. A. M. E.; Del Toro Riera, M.; Germain, D. P.; Huidekoper, H.; Van Den Hout, J. M. P.; Van Der Ploeg, A. T.; Zeman, J.; Witters, P.; Weinhold, N.; Vijay, S.; Van Hasselt, P. M.; Ullrich, K.; Tournev, I.; Salviati, A.; Rutsch, F.; Roland, D.; Rokicki, D.; Rodrigues, E.; Pfliegler, G.; Miclea, D.; Martins, E.; Martin-Hernandez, E.; Komninaka, V.; Kingma, S.; Jones, S.; Hiwot, T. G.; Hennermann, J.; Guffon-Fouilhoux, N.; Grosso, S.; Lopez, A. G. -M.; Gasperini, S.; Gaspar, A. M.; Ferreira, A.; Eyskens, F.; Dobbelaere, D.; Di Rocco, M.; De Las Heras Montero, J.; De Abreu Freire Diogo Matos, L. M.; Deegan, P.; Debray, F. G.; Das, A. M.; Darin, N.; Couce-Pico, M. L.; Chronopoulou, E.; Chabrol, B.; Cassiman, D.; Burlina, A.; Brassier, A.; Bosch, A. M.; Bordugo, A.; Belmatoug, N.; Batzios, S.; Baric, I.
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (Orphanet Journal of Rare Diseases, (2022), 17, 1, (437), 10.1186/s13023-022-02587-0)
2023 Diaz, G. A.; Giugliani, R.; Gufon, N.; Jones, S. A.; Mengel, E.; Scarpa, M.; Witters, P.; Yarramaneni, A.; Li, J.; Armstrong, N. M.; Kim, Y.; Ortemann-Renon, C.; Kumar, M.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
2023 Nabbout, R.; Zanello, G.; Baker, D.; Black, L.; Brambilla, I.; Buske, O. J.; Conklin, L. S.; Davies, E. H.; Julkowska, D.; Kim, Y.; Klopstock, T.; Nakamura, H.; Nielsen, K. G.; Pariser, A. R.; Pastor, J. C.; Scarpa, M.; Smith, M.; Taruscio, D.; Groft, S.
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.
Erratum: One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (Genetics in Medicine (2021) 23(8) (1543–1550), (S1098360021050620), (10.1038/s41436-021-01156-3))
2022 Diaz, G. A.; Jones, S. A.; Scarpa, M.; Mengel, K. E.; Giugliani, R.; Guffon, N.; Batsu, I.; Fraser, P. A.; Li, J.; Zhang, Q.; Ortemann-Renon, C.
Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group
2022 Ramanan, A. V.; Modi, N.; de Wildt, S. N.; Aurich, B.; Bakhtadze, S.; Sirvent, F. J. B.; Cabanas, F.; Campbell, L.; Casanova, M.; Charlton, P.; Crandall, W.; Eichler, I.; Fregonese, L.; Hawcutt, D. B.; Iveli, P.; Jaki, T.; Jocic-Jakubi, B.; Johnson, M.; Kaguelidou, F.; Karadag, B.; Kelly, L. E.; Lim, M.; Moreno, C.; Neumann, E.; Ollivier, C.; Oualha, M.; Raffaeli, G.; Ribeiro, M. A.; Roilides, E.; de Rojas, T.; Simon, A. R. S.; Ruperto, N.; Scarpa, M.; Schwab, M.; Siapkara, A.; Singh, Y.; Smits, A.; Striano, P.; Urru, S. A. M.; Vivarelli, M.; de Wildt, S.; Zivkoviz, Z.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
2022 Diaz, G. A.; Giugliani, R.; Guffon, N.; Jones, S. A.; Mengel, E.; Scarpa, M.; Witters, P.; Yarramaneni, A.; Li, J.; Armstrong, N. M.; Kim, Y.; Ortemann-Renon, C.; Kumar, M.
Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe
2022 Scarpa, M.; Bonham, J. R.; Dionisi-Vici, C.; Prevot, J.; Pergent, M.; Meyts, I.; Mahlaoui, N.; Schielen, P. C. J. I.
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN
2022 Paneghetti, L.; Bellettato, C. M.; Sechi, A.; Stepien, K. M.; Scarpa, M.
Rare disease education in Europe and beyond: time to act
2022 Tumiene, B.; Peters, H.; Melegh, B.; Peterlin, B.; Utkus, A.; Fatkulina, N.; Pfliegler, G.; Graessner, H.; Hermanns, S.; Scarpa, M.; Blay, J. -Y.; Ashton, S.; Mckay, L.; Baynam, G.
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)
2022 Hughes, D. A.; Deegan, P.; Giraldo, P.; Goker-Alpan, O.; Lau, H.; Lukina, E.; Revel-Vilk, S.; Scarpa, M.; Botha, J.; Gadir, N.; Zimran, A.
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy
2022 Wiesinger, A. -M.; Bigger, B.; Giugliani, R.; Scarpa, M.; Moser, T.; Lampe, C.; Kampmann, C.; Lagler, F. B.
Towards Achieving Equity and Innovation in Newborn Screening across Europe
2022 Sikonja, J.; Groselj, U.; Scarpa, M.; la Marca, G.; Cheillan, D.; Kolker, S.; Zetterstrom, R. H.; Kozich, V.; Cam, Y. L.; Gumus, G.; Bottarelli, V.; van der Burg, M.; Dekkers, E.; Battelino, T.; Prevot, J.; Schielen, P. C. J. I.; Bonham, J. R.
WORLDSymposiumTM 2022⁎: 18th Annual Research Meeting, Scientific Sessions
2022 Whitley, C. B.; Belur, L.; Bigger, B.; Braunlin, E.; Brooks, P. J.; Brown, A. R.; Diethelm-Okita, B.; Giugliani, R.; Jarnes, J. R.; Meader, A.; Morris, J. A.; Ramaswami, U.; Saterdalen, D. C.; Scarpa, M.; Sidransky, E.; Smpokou, P.; Tagle, D.
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.
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.
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.
European Reference Networks: challenges and opportunities
2021 Tumiene, B.; Graessner, H.; Mathijssen, I. M.; Pereira, A. M.; Schaefer, F.; Scarpa, M.; Blay, J. -Y.; Dollfus, H.; Hoogerbrugge, N.
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy
2021 Sechi, A.; Vit, A.; Avellini, C.; Dardis, A.; Pellegrin, A.; Scarpa, M.; Bembi, B.