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.
Papers
More filters
Journal ArticleDOI
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index
Rossella Parini,Miriam Rigoldi,F Santus,Francesca Furlan,P De Lorenzo,G Valsecchi,Daniela Concolino,Pietro Strisciuglio,Sandro Feriozzi,R Di Vito,R Ravaglia,Roberta Ricci,Amelia Morrone +12 more
TL;DR: The Mainz Severity Score Index (MSSI) is a sensitive and useful tool for monitoring disease progression and assessing the effects of ERT in a population of patients from different treatment centres.
Journal ArticleDOI
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Catia Cavicchi,Maria Alice Donati,Rossella Parini,Miriam Rigoldi,Mauro Bernardi,Francesca Orfei,Nicolò Gentiloni Silveri,Aniello Colasante,Silvia Funghini,Serena Catarzi,Elisabetta Pasquini,Giancarlo la Marca,Giancarlo la Marca,Sean D. Mooney,Renzo Guerrini,Renzo Guerrini,Amelia Morrone,Amelia Morrone +17 more
TL;DR: This report raises awareness of the ED medical staff in considering OTCD in the differential diagnosis of sudden neurological and behavioural disorders associated with hyperammonemia at any age and in both genders and widens the knowledge about combined effect of genetic and environmental factors in determining the phenotypic expression of OTCC.
Journal ArticleDOI
Clinical pharmacology of netilmicin in preterm and term newborn infants
Bruno Granati,Bruno Granati,Bruno Granati,Baroukh M. Assael,Baroukh M. Assael,Baroukh M. Assael,Menger Chung,Menger Chung,Menger Chung,Camilla Montini,Camilla Montini,Camilla Montini,Rossella Parini,Rossella Parini,Rossella Parini,Paola Pollazzon,Paola Pollazzon,Paola Pollazzon,Luigi Gagliardi,Luigi Gagliardi,Luigi Gagliardi,Elaine Radwanski,Elaine Radwanski,Elaine Radwanski,Firmino F. Rubaltelli,Firmino F. Rubaltelli,Firmino F. Rubaltelli +26 more
TL;DR: In this paper, the serum washout profile of netilmicin 2.5 mg/kg intramuscularly two or three times per day according to postnatal age, for 5 to 14 days was observed in 22 infants after discontinuation of therapy.
Journal ArticleDOI
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Gabriella Esposito,Maria Rosaria Imperato,Luigi Ieno,Rosa Sorvillo,Vincenzo Benigno,Giancarlo Parenti,Rossella Parini,Luigi Vitagliano,Adriana Zagari,Francesco Salvatore +9 more
TL;DR: The identification of only one ALDOB mutation in symptomatic patients suggests that HFI symptoms can, albeit rarely, appear also in heterozygotes, therefore, an excessive and continuous fructose dietary intake may have deleterious effects even in apparently asymptomatic HFI carriers.
Book ChapterDOI
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
Daria Diodato,Federica Invernizzi,Eleonora Lamantea,Gigliola Fagiolari,Rossella Parini,Francesca Menni,Giancarlo Parenti,Lina Bollani,Elisabetta Pasquini,Maria Anna Donati,Denise Cassandrini,Filippo M. Santorelli,Tobias B. Haack,Holger Prokisch,Daniele Ghezzi,Costanza Lamperti,Massimo Zeviani +16 more
TL;DR: Findings indicate that cV impairment could indirectly alter other respiratory chain complex activities by disrupting the mitochondrial cristae structure.