D
Daniela Antuzzi
Researcher at The Catholic University of America
Publications - 47
Citations - 996
Daniela Antuzzi is an academic researcher from The Catholic University of America. The author has contributed to research in topics: Fabry disease & Enzyme replacement therapy. The author has an hindex of 14, co-authored 47 publications receiving 894 citations. Previous affiliations of Daniela Antuzzi include University of Helsinki & Sapienza University of Rome.
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Journal ArticleDOI
Prevalence of Fabry Disease in Female Patients With Late-Onset Hypertrophic Cardiomyopathy
Cristina Chimenti,Maurizio Pieroni,Emanuela Morgante,Daniela Antuzzi,Andrea M. Russo,Matteo Antonio Russo,Attilio Maseri,Andrea Frustaci +7 more
TL;DR: FD may account for up to 12% of females with late-onset HCM, and those heterozygous for FD with left ventricular hypertrophy are potential candidates for enzyme enhancement/replacement therapy.
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GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti,Scott C. Garman,Yadilette Rivera-Colón,Elena Procopio,Serena Catarzi,Lorenzo Ferri,Carmen Guido,Paola Martelli,Rossella Parini,Daniela Antuzzi,Roberta Battini,Michela Sibilio,Alessandro Simonati,Elena Fontana,Alessandro Salviati,Gulcin Akinci,Cristina Cereda,Carlo Dionisi-Vici,Francesca Deodato,Adele D'Amico,Alessandra d'Azzo,Enrico Bertini,Mirella Filocamo,Maurizio Scarpa,Maja Di Rocco,Cynthia J. Tifft,Federica Ciani,Serena Gasperini,Elisabetta Pasquini,Renzo Guerrini,Maria Alice Donati,Amelia Morrone +31 more
TL;DR: A critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease is undertaken, which shows 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation and four new genetic variants with a predicted polymorphic nature are identified.
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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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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
Amelia Morrone,Catia Cavicchi,T Bardelli,Daniela Antuzzi,Rossella Parini,M. Di Rocco,Sandro Feriozzi,Orazio Gabrielli,Rita Barone,Giuseppe Pistone,Claudio Spisni,Roberta Ricci,Enrico Zammarchi +12 more
TL;DR: The classical form is mainly characterised, in affected hemizygous males, by angiokeratoma, acroparaesthesias, hypohidrosis, pains, fever crises, and involvement of the kidneys, brain, and heart, while the cardiac variant is characterised by symptoms restricted to cardiac abnormalities.
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Functional studies of new gla gene mutations leading to conformational fabry disease
C. Filoni,Anna Caciotti,Laura Carraresi,Catia Cavicchi,Rossella Parini,Daniela Antuzzi,Anna Zampetti,Sandro Feriozzi,P. Poisetti,Scott C. Garman,Renzo Guerrini,Enrico Zammarchi,M.A. Donati,Amelia Morrone +13 more
TL;DR: The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.