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
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses.
Vlasta Fesslova,Paola Corti,Giovanna Sersale,Attilio Rovelli,Pierluigi Russo,Savina Mannarino,Gianfranco Butera,Rossella Parini +7 more
TL;DR: Cardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease.
Journal ArticleDOI
Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
S Buechner,Massimo Moretti,Ap Burlina,G Cei,Renzo Manara,Roberta Ricci,Renzo Mignani,Rossella Parini,R Di Vito,Gp Giordano,P Simonelli,Gabriele Siciliano,Walter Borsini +12 more
TL;DR: A high frequency of CNS involvement in homozygous and heterozygous AFD patients is demonstrated, often characterised by early age at onset and abnormal brain MRIs, demonstrating primary and secondary prophylaxes of cerebrovascular disease are extremely important.
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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Bruno Bembi,Federica Edith Pisa,Marco Confalonieri,Giovanni Ciana,Agata Fiumara,Rossella Parini,Miriam Rigoldi,Arrigo Moglia,Alfredo Costa,Annalisa Carlucci,Cesare Danesino,Maria Gabriela Pittis,Andrea Dardis,Sabrina Ravaglia +13 more
TL;DR: Long-term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late-onset GSDII.
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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara,Elena Priante,M Grimaldi,Lucia Santoro,Luca Astarita,Rita Barone,Daniela Concolino,Maja Di Rocco,Maria Alice Donati,Simona Fecarotta,Anna Ficcadenti,Agata Fiumara,Francesca Furlan,Irene Giovannini,Franco Lilliu,Rodica Mardari,Gabriele Polonara,Elena Procopio,Angelica Rampazzo,Andrea Rossi,Graziolina Sanna,Rossella Parini,Maurizio Scarpa +22 more
TL;DR: The spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation and WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.
Journal ArticleDOI
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature
Daniela Melis,Rossella Fulceri,Giancarlo Parenti,Paola Marcolongo,Rosanna Gatti,Rossella Parini,Enrica Riva,Roberto Della Casa,Enrico Zammarchi,Generoso Andria,Angelo Benedetti +10 more
TL;DR: No correlation was found between individual mutations and the presence of neutropenia, bacterial infections and systemic complications and the results suggest that different genes and proteins modulate neutrophil differentiation, maturation and apoptosis and thus the severity of infections.