Sfoglia per Autore
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
2021 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.
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
2021 Mole, S. E.; Schulz, A.; Badoe, E.; Berkovic, S. F.; de Los Reyes, E. C.; Dulz, S.; Gissen, P.; Guelbert, N.; Lourenco, C. M.; Mason, H. L.; Mink, J. W.; Murphy, N.; Nickel, M.; Olaya, J. E.; Scarpa, M.; Scheffer, I. E.; Simonati, A.; Specchio, N.; Von Lobbecke, I.; Wang, R. Y.; Williams, R. E.
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.
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.
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.
U-IMD: the first Unified European registry for inherited metabolic diseases
2021 Opladen, T.; Gleich, F.; Kozich, V.; Scarpa, M.; Martinelli, D.; Schaefer, F.; Jeltsch, K.; Julia-Palacios, N.; Garcia-Cazorla, A.; Dionisi-Vici, C.; Kolker, S.
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.
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