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
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Journal ArticleDOI
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Martina Huemer,Céline Bürer,Céline Bürer,Pavel Ješina,Viktor Kožich,Markus A. Landolt,Markus A. Landolt,Terttu Suormala,Terttu Suormala,Brian Fowler,Brian Fowler,Persephone Augoustides-Savvopoulou,E Blair,Katarina Brennerova,A. Broomfield,L. De Meirleir,Gülden Gökçay,Julia B. Hennermann,P Jardine,Johannes Koch,Stefan Lorenzl,Amelie S. Lotz-Havla,J Noss,Rossella Parini,Heidi Peters,Barbara Plecko,F J Ramos,Andrea Schlune,Konstantinos Tsiakas,M. Zerjav Tansek,Matthias R. Baumgartner,Matthias R. Baumgartner +31 more
TL;DR: The majority of patients with the cblE and cblG defect show limited clinical response to treatment and have neurocognitive impairment, and in vitro enzyme analysis data showed no correlation with outcome.
Journal ArticleDOI
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome
Paul Harmatz,Karl Eugen Mengel,Roberto Giugliani,Vassili Valayannopoulos,Shuan-Pei Lin,Rossella Parini,Nathalie Guffon,Barbara K. Burton,Christian J. Hendriksz,John J. Mitchell,Ana Maria Martins,Simon Jones,Norberto Guelbert,Ashok Vellodi,Frits A. Wijburg,Ke Yang,Peter Slasor,Celeste Decker +17 more
TL;DR: The natural history of Morquio A syndrome is characterized by progressive impairment of endurance as measured by the 6MWT, anditudinal trends in FVC and MVV showing increase in younger patients, but decrease in older patients, are likely to be influenced by growth.
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Molecular Analysis of 30 Mucopolysaccharidosis Type I Patients: Evaluation of the Mutational Spectrum in Italian Population and Identification of 13 Novel Mutations
N. Venturi,Attilio Rovelli,Rossella Parini,Francesca Menni,F. Brambillasca,F. Bertagnolio,Graziella Uziel,Rosanna Gatti,Mirella Filocamo,M.A. Donati,Andrea Biondi,S. Goldwurm +11 more
TL;DR: The great heterogeneity found in the MPS‐I population hampers mutation detection and hinders the genotype‐phenotype correlation, and in most cases the patients' genotypes were unique combinations of mutations.
Journal ArticleDOI
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).
Uma Ramaswami,Donald E. Stull,Rossella Parini,Guillem Pintos-Morell,Catharina Whybra,Gisela Kalkum,Marianne Rohrbach,Mireia Raluy-Callado,Michael Beck,Wen-Hung Chen,Ingela Wiklund +10 more
TL;DR: Preliminary results indicate that the measurement properties of FPHPQ are valid and reliable for assessing patient-reported symptoms of FD and could be a useful tool for clinicians to understand the progression of disease and monitor treatment effects.
Journal ArticleDOI
Ocular manifestations in the mucopolysaccharidoses – a review
Jane Ashworth,Friedrich E. Kruse,Björn Bachmann,Alma Patrizia Tormene,Agnese Suppiej,Rossella Parini,Nathalie Guffon +6 more
TL;DR: The diagnosis of these ocular features and the diagnostic problems that may arise in patients (children) with MPS are discussed, and the central role ophthalmologists may play in the diagnosis and follow-up of these patients is highlighted.