R
Rossella Parini
Researcher at University of Milano-Bicocca
Publications - 201
Citations - 7423
Rossella Parini is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 43, co-authored 197 publications receiving 6452 citations. Previous affiliations of Rossella Parini include University of Padua & University of Milan.
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Journal ArticleDOI
Functional studies of new gla gene mutations leading to conformational fabry disease
C. Filoni,Anna Caciotti,Laura Carraresi,Catia Cavicchi,Rossella Parini,Daniela Antuzzi,Anna Zampetti,Sandro Feriozzi,P. Poisetti,Scott C. Garman,Renzo Guerrini,Enrico Zammarchi,M.A. Donati,Amelia Morrone +13 more
TL;DR: The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.
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Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Begoña Merinero,Belén Pérez,Celia Pérez-Cerdá,Alejandro Rincón,Lourdes R. Desviat,Maria Angeles Martínez,P. Ruiz Sala,María José Gil García,Luis Aldámiz-Echevarría,J. Campos,Verónica Cornejo,M. del Toro,A. Mahfoud,Mercedes Martínez-Pardo,Rossella Parini,Consuelo C. Pedrón,Luis Peña-Quintana,M. Pérez,Morteza Pourfarzam,Magdalena Ugarte +19 more
TL;DR: The biochemical and clinical phenotype of 32 MMA patients according to their genotype was examined, and the mutant mRNA stability by real-time PCR analysis was studied, finding no missense mutations identified in the MUT gene affected mRNA stability.
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Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
Christian J. Hendriksz,Rossella Parini,Moeenaldeen Al-Sayed,Julian Raiman,Roberto Giugliani,Martha Solano Villarreal,John J. Mitchell,Barbara K. Burton,Norberto Guelbert,Fiona Stewart,Derralynn Hughes,Kenneth I. Berger,Peter Slasor,Robert Matousek,Elaina Jurecki,Adam J. Shaywitz,Paul Harmatz +16 more
TL;DR: Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks in an open-label, multi-center, phase III extension study, and it was revealed that durability of 6MWT improvements was not impacted by baseline 6 MWT distance, use of a walking aid, or age.
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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini,Paola De Lorenzo,Andrea Dardis,Alberto Burlina,Alessandra Cassio,Paolo Cavarzere,Daniela Concolino,Roberto Della Casa,Federica Deodato,Maria Alice Donati,Agata Fiumara,Serena Gasperini,Francesca Menni,Veronica Pagliardini,Michele Sacchini,Marco Spada,Roberta Taurisano,Maria Grazia Valsecchi,Maja Di Rocco,Bruno Bembi +19 more
TL;DR: The data obtained confirmed the better outcome of the CRIM-positive patients but at the same time, showed the inability of the current therapeutic approach to reverse or stabilize the disease progression.
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Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
Anna Zampetti,C. H. Orteu,Daniela Antuzzi,Maria Rita Bongiorno,S. Manco,Maria Gnarra,Amelia Morrone,Giorgia Cardinali,Daniela Kovacs,Nicaela Aspite,Dennis Linder,Rossella Parini,Claudio Feliciani +12 more
TL;DR: An algorithm for the classification of angiokeratomas is presented which might prove useful for the diagnosis and management of Fabry disease and whether the use of an algorithm might reduce the number of genetic consultations.