R
Roberta Taurisano
Researcher at Boston Children's Hospital
Publications - 23
Citations - 476
Roberta Taurisano is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Enzyme replacement therapy & Glycogen storage disease type II. The author has an hindex of 11, co-authored 22 publications receiving 369 citations.
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Journal ArticleDOI
Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
Sara Boenzi,Federica Deodato,Roberta Taurisano,Bianca Maria Goffredo,Cristiano Rizzo,Carlo Dionisi-Vici +5 more
TL;DR: It is observed that plasma oxysterols correlate negatively with patient’s age and positively with serum total bilirubin, suggesting the potential relationship between oxysterol levels and hepatic disease status.
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A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease
Sara Boenzi,Federica Deodato,Roberta Taurisano,Diego Martinelli,Daniela Verrigni,Rosalba Carrozzo,Enrico Bertini,Anna Pastore,Carlo Dionisi-Vici,David W. Johnson +9 more
TL;DR: A sensitive LC-MS/MS method to quantify the oxysterols in plasma as dimethylaminobutyrate ester suitable for ESI analysis, which provides a simple, rapid and non-invasive diagnostic tool for the biochemical diagnosis of NP-C disease.
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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini,Paola De Lorenzo,Andrea Dardis,Alberto Burlina,Alessandra Cassio,Paolo Cavarzere,Daniela Concolino,Roberto Della Casa,Federica Deodato,Maria Alice Donati,Agata Fiumara,Serena Gasperini,Francesca Menni,Veronica Pagliardini,Michele Sacchini,Marco Spada,Roberta Taurisano,Maria Grazia Valsecchi,Maja Di Rocco,Bruno Bembi +19 more
TL;DR: The data obtained confirmed the better outcome of the CRIM-positive patients but at the same time, showed the inability of the current therapeutic approach to reverse or stabilize the disease progression.
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Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Alfredo Orrico,Lucia Galli,Laurence Faivre,Jill Clayton-Smith,Silvia Azzarello-Burri,Jens Michael Hertz,Sébastien Jacquemont,Roberta Taurisano,I. Arroyo Carrera,E. Tarantino,Koenraad Devriendt,Daniela Melis,T. Thelle,U. Meinhardt,Vincenzo Sorrentino +14 more
TL;DR: Screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS identified nine novel mutations and found any evidence for phenotype–genotype correlations between type and position of mutations and clinical features.
Journal ArticleDOI
Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.
Roberta Taurisano,Arianna Maiorana,Fabrizio De Benedetti,Carlo Dionisi-Vici,Renata Boldrini,Federica Deodato +5 more
TL;DR: This case indicates that WD can cause secondary HLH and suggests that a careful metabolic workup should be performed when facing to a pediatric patient with HLH.