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
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.
Rossella Parini,Guillem Pintos-Morell,Julia B. Hennermann,Ting-Rong Hsu,Nesrin Karabul,Vasiliki Kalampoki,Andrey Gurevich,Uma Ramaswami +7 more
TL;DR: Findings support early ERT initiation in Fabry disease and suggest renal and cardiac disease progression appears attenuated in patients starting ERT in childhood or early adulthood versus patients startingERT in later adulthood.
Journal ArticleDOI
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
Susanna Lualdi,Maria Gabriela Pittis,Stefano Regis,Rossella Parini,Anna E. Allegri,Francesca Furlan,Bruno Bembi,Mirella Filocamo +7 more
TL;DR: The molecular characterisation of three MPS II patients with multiple aberrant transcripts due to three different point mutations emphasised the importance of cloning and sequencing independent transcripts to reveal less abundant, aberrant products, which often could not be detected by direct sequencing.
Journal Article
Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses.
Pablo Ingelmo,Rossella Parini,M Grimaldi,Mauri F,Romagnoli M,Tagliabue G,Marta Somaini,Emre Sahillioglu,Geoff Frawley +8 more
TL;DR: Airway reconstruction using MDCT images from a previous CT scan may provide a useful assessment tool for preoperative airway evaluation and planning in MPS children.
Journal ArticleDOI
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
Bianca Giuffre,Rossella Parini,T. Rizzuti,Lucia Morandi,O. P. van Diggelen,Claudio Bruno,Mario Giuffrè +6 more
TL;DR: D diagnosis of glycogenosis type IV was accomplished on the second baby and required several biochemical and histological studies, in order to rule out both neuromuscular disorders and the most common storage diseases with neonatal onset.