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
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
Rossella Parini,Simon Jones,Paul Harmatz,Roberto Giugliani,Nancy J. Mendelsohn,Nancy J. Mendelsohn +5 more
TL;DR: There is no evidence at present for predicting disease severity in patients with Hunter syndrome based on changes in growth characteristics, and Logistic regression modelling found that increased BMI was associated with the presence of cognitive impairment.
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First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.
Johannes Häberle,Maria Antonia Vilaseca,Concetta Meli,Miriam Rigoldi,Fernando Jara,Ignazio Vecchio,Carlo Capra,Rossella Parini +7 more
TL;DR: A severe hyperammonemic coma is found during the postpartum period in three women who were all shown to suffer from a yet undiagnosed inborn error of amino acid metabolism, citrullinemia type I, and the inclusion of metabolic studies for all acute neurological symptoms in the puerperal period is suggested.
Journal ArticleDOI
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Sabrina Lucchiari,Isabella Fogh,Alessandro Prelle,Rossella Parini,Nereo Bresolin,Daniela Melis,L. Fiori,Guglielmo Scarlato,Giacomo P. Comi +8 more
TL;DR: The data confirm the extreme genetic heterogeneity of this disease, thus precluding a strategy of mutation finding based on screening of recurrent common mutations, and identifies seven novel mutations from a collection of 18 independent alleles from the Mediterranean area.
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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Lorenzo Ferri,Lorenzo Ferri,C Guido,C Guido,G. la Marca,Sabrina Malvagia,Catia Cavicchi,Agata Fiumara,Rita Barone,Rossella Parini,Daniela Antuzzi,Claudio Feliciani,Anna Zampetti,Raffaele Manna,Sabrina Giglio,C Della Valle,Xiaoyang Wu,Kenneth J. Valenzano,Elfrida R. Benjamin,Maria Alice Donati,Renzo Guerrini,Maurizio Genuardi,Amelia Morrone,Amelia Morrone +23 more
TL;DR: Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Journal ArticleDOI
Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
TL;DR: The main clinical and biochemical features of patients suffering from GM3 synthase or GM2/GD2/GA2 synthase deficiency, compared with the phenotypes described in mice that are null for single or multiple glycosyltransferase genes, provide suggestions to improve the recognition of novel mutations and potentially related disorders.