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
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Francesca Bertola,Mirella Filocamo,Giorgio Casati,Matthew Mort,Camillo Rosano,Anna Tylki-Szymańska,Beyhan Tüysüz,Orazio Gabrielli,Serena Grossi,Maurizio Scarpa,Giancarlo Parenti,Daniela Antuzzi,Jaime Dalmau,Maja Di Rocco,Carlo Dionisi Vici,İlyas Okur,Jordi Rosell,Attilio Rovelli,Francesca Furlan,Miriam Rigoldi,Andrea Biondi,David Neil Cooper,Rossella Parini +22 more
TL;DR: Data from mutational analysis of the IDUA gene demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate the increasing ability to make deductions pertaining to the genotype‐phenotype relationship in disorders manifesting a high degree of allelic heterogeneity.
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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Christian J. Hendriksz,Roberto Giugliani,Paul Harmatz,Eugen Mengel,Nathalie Guffon,Vassili Valayannopoulos,Rossella Parini,Derralynn Hughes,Gregory M. Pastores,Heather Lau,Moeenaldeen Al-Sayed,Julian Raiman,Ke Yang,Matthew Mealiffe,Christine Haller +14 more
TL;DR: Treatment with weekly elosulfase alfa led to improvements across most efficacy measures, resulting in clinically meaningful benefits in a heterogeneous study population, and the largest treatment effects were seen in maximal voluntary ventilation, MPS-HAQ, height, and growth rate.
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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance
Maria Pia Sperandeo,Maria Teresa Bassi,Mirko Riboni,Giancarlo Parenti,Anna Buoninconti,Marta Manzoni,Barbara Incerti,Maria Rosaria Larocca,Maja Di Rocco,Pietro Strisciuglio,Irma Dianzani,Rossella Parini,Miranda Candito,Fumio Endo,Andrea Ballabio,Generoso Andria,Gianfranco Sebastio,Giuseppe Borsani +17 more
TL;DR: It is noteworthy that 242A-->C causes the change of Met1 to Leu, a rare mutational event previously found in a few inherited conditions, and both intrafamilial and interfamilial phenotypic variability were observed in homozygotes for the same mutation.
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Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Vito Iacobazzi,Federica Invernizzi,Silvia Baratta,Roser Pons,Wendy K. Chung,Barbara Garavaglia,Carlo Dionisi-Vici,Antonia Ribes,Rossella Parini,Maria Dolores Huertas,Susana Roldan,Graziantonio Lauria,Ferdinando Palmieri,Franco Taroni +13 more
TL;DR: Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between the phenotype and the genotype of six CACT‐deficient patients from Italy, Spain, and North America who exhibited significant clinical heterogeneity.
Journal ArticleDOI
Open issues in Mucopolysaccharidosis type I-Hurler.
Rossella Parini,Federica Deodato,Maja Di Rocco,Edoardo Lanino,Franco Locatelli,Franco Locatelli,Chiara Messina,Attilio Rovelli,Maurizio Scarpa +8 more
TL;DR: This review will focus on all critical issues related to the management of MPS I-H, including a prolonged neuropsychological follow-up of post-transplant cognitive development of children and residual disease burden.