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
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
Camilla Filoni,Anna Caciotti,Laura Carraresi,Maria Alice Donati,Renzo Mignani,Rossella Parini,Mirella Filocamo,Fausto Soliani,Lisa Simi,Renzo Guerrini,Enrico Zammarchi,Amelia Morrone +11 more
TL;DR: Findings strongly suggest a correlation between this new intronic mutation and the unbalanced α-galactosidase A mRNAs ratio, which could therefore be responsible for the reduced enzyme activity causing Fabry disease.
Journal ArticleDOI
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases.
Giuseppe Gaipa,Maria Dassi,Paolo Perseghin,N. Venturi,Paola Corti,Sonia Bonanomi,Adriana Balduzzi,Daniela Longoni,Cornelio Uderzo,Andrea Biondi,Giuseppe Masera,Rossella Parini,B Bertagnolio,Graziella Uziel,C. Peters,Attilio Rovelli +15 more
TL;DR: The CliniMACS method is technically feasible and can be successfully used to transplant children with IMSD and it is reported that all patients engrafted at a median time of 12 days and none of the patients developed GVHD.
Book ChapterDOI
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
Alessandra Brambilla,Savina Mannarino,Roberta Pretese,Serena Gasperini,Cinzia Galimberti,Rossella Parini +5 more
TL;DR: A diet rich in fats as well as proteins and poor in carbohydrates could be a beneficial therapeutic choice for GSD III with cardiomyopathy.
Book ChapterDOI
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
TL;DR: MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients and were found to be suitable for clinical management in patients with rapidly and slowly progressive disease.
Journal ArticleDOI
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Paul Harmatz,Christian J. Hendriksz,Christina Lampe,Jim McGill,Rossella Parini,Elisa Leão-Teles,Vassili Valayannopoulos,Tim J Cole,Robert Matousek,Sue Graham,Nathalie Guffon,Adrian Quartel +11 more
TL;DR: Among patients with high baseline uGAG levels, galsulfase ERT was associated with an increase in Z-score for those beginning treatment at 0-3, >3-6, >6-9, >9-12, and >12-15years of age (p<0.05), suggesting an age- and severity-dependent impact on growth.