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Published in Journal of inherited metabolic disease (01.08.2010)
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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
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Published in Orphanet journal of rare diseases (15.06.2017)
Published in Orphanet journal of rare diseases (15.06.2017)
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Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
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Published in PloS one (26.05.2016)
Published in PloS one (26.05.2016)
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Paneghetti, Laura, Bellettato, Cinzia Maria, Sechi, Annalisa, Stepien, Karolina M, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (04.03.2022)
Published in Orphanet journal of rare diseases (04.03.2022)
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Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
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Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Muenzer, Joseph, Giugliani, Roberto, Scarpa, Maurizio, Tylki-Szymańska, Anna, Jego, Virginie, Beck, Michael
Published in Orphanet journal of rare diseases (03.10.2017)
Published in Orphanet journal of rare diseases (03.10.2017)
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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
Published in International journal of molecular sciences (24.04.2019)
Published in International journal of molecular sciences (24.04.2019)
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Muldoon, Leslie L, Alvarez, Jorge I, Begley, David J, Boado, Ruben J, del Zoppo, Gregory J, Doolittle, Nancy D, Engelhardt, Britta, Hallenbeck, John M, Lonser, Russell R, Ohlfest, John R, Prat, Alexandre, Scarpa, Maurizio, Smeyne, Richard J, Drewes, Lester R, Neuwelt, Edward A
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Published in Journal of Cerebral Blood Flow & Metabolism (01.01.2013)
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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
Diaz, George A, Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A, Mengel, Eugen, Scarpa, Maurizio, Witters, Peter, Yarramaneni, Abhimanyu, Li, Jing, Armstrong, Nicole M, Kim, Yong, Ortemann-Renon, Catherine, Kumar, Monica
Published in Orphanet journal of rare diseases (14.12.2022)
Published in Orphanet journal of rare diseases (14.12.2022)
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Scarpa, Maurizio, Orchard, Paul J., Schulz, Angela, Dickson, Patricia I., Haskins, Mark E., Escolar, Maria L., Giugliani, Roberto
Published in Molecular genetics and metabolism (01.12.2017)
Published in Molecular genetics and metabolism (01.12.2017)
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Tumiene, Birute, Peters, Harm, Melegh, Bela, Peterlin, Borut, Utkus, Algirdas, Fatkulina, Natalja, Pfliegler, György, Graessner, Holm, Hermanns, Sanja, Scarpa, Maurizio, Blay, Jean-Yves, Ashton, Sharon, McKay, Lucy, Baynam, Gareth
Published in Orphanet journal of rare diseases (19.12.2022)
Published in Orphanet journal of rare diseases (19.12.2022)
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Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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U-IMD: the first Unified European registry for inherited metabolic diseases
Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, García-Cazorla, Ángels, Dionisi-Vici, Carlo, Kölker, Stefan
Published in Orphanet journal of rare diseases (18.02.2021)
Published in Orphanet journal of rare diseases (18.02.2021)
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