Intrafamilial phenotypic variability in four families with Anderson-Fabry disease
Rigoldi, M., Concolino, D., Morrone, A., Pieruzzi, F., Ravaglia, R., Furlan, F., Santus, F., Strisciuglio, P., Torti, G., Parini, R.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
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Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
Ramaswami, U, Wendt, S, Pintos-Morell, G, Parini, R, Whybra, C, Leon Leal, J A, Santus, F, Beck, M
Published in Acta Paediatrica (01.01.2007)
Published in Acta Paediatrica (01.01.2007)
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Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index
Parini, R, Rigoldi, M, Santus, F, Furlan, F, De Lorenzo, P, Valsecchi, G, Concolino, D, Strisciuglio, P, Feriozzi, S, Di Vito, R, Ravaglia, R, Ricci, R, Morrone, A
Published in Clinical genetics (01.09.2008)
Published in Clinical genetics (01.09.2008)
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Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome
Furlan, F., Santer, R., Vismara, E., Santus, F., Sersale, G., Menni, F., Parini, R.
Published in Journal of inherited metabolic disease (01.10.2006)
Published in Journal of inherited metabolic disease (01.10.2006)
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Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Halter, Joerg P, Michael, W, Schüpbach, M, Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T, Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A, Boelens, Jaap J, de Coo, Irenaeus F M, Fay, Keith, Sue, Carolyn M, Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R, Savage, David, Martí, Ramon, Chinnery, Patrick F, Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio
Published in Brain (London, England : 1878) (01.10.2015)
Published in Brain (London, England : 1878) (01.10.2015)
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283 Treatment with Enzymatic Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type I. Thirty Months Experience
Sersale, G, Santus, F, Furlan, F, Rigoldi, M, Menni, F, Cichello, F, Tedesco, L, Gamba, A, Parini, R
Published in Pediatric research (01.08.2005)
Published in Pediatric research (01.08.2005)
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