Publications by authors named "Daniela Antuzzi"

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The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO).
Angela Maria Di Francesco, Elena Verrecchia, Ludovico Luca Sicignano, Maria Grazia Massaro, Daniela Antuzzi

J Clin Med· November 2021

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Morquio B disease: From pathophysiology towards diagnosis.
Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, Davide Mei, Elena Procopio, Daniela Antuzzi

Mol Genet Metab· March 2021

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Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, Gaia Bagordo, Armando Filippini, Daniela Antuzzi

Clin Chim Acta· June 2018

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Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin.
Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi

Eur J Case Rep Intern Med· July 2017

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Clinical use of plasma chitotriosidase in severe sepsis.
Carlo Chiarla, Ivo Giovannini, Daniela Antuzzi, Andrea Piras, Francesco Ardito

Curr Med Res Opin· August 2016

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The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Elena Verrecchia, Anna Zampetti, Daniela Antuzzi, Roberta Ricci, Lorenzo Ferri

Eur J Intern Med· July 2016

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Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.
Giulia Bersani, Cristina Guerriero, Francesco Ricci, Piero Valentini, Giuseppe Zampino, Daniela Antuzzi

J Dtsch Dermatol Ges· March 2016

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Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, Lorenzo Ferri, Serena Catarzi, Daniela Antuzzi

Hum Mutat· March 2015

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Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Anna Zampetti, Maria Gnarra, Walter Borsini, Federica Giurdanella, Daniela Antuzzi

Cytokine· March 2013

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Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study.
Cristina Chimenti, Luca Padua, Costanza Pazzaglia, Emanuela Morgante, Carlos Centurion, Daniela Antuzzi

Hum Pathol· September 2012

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Inhibition of cardiomyocyte lysosomal activity in hydroxychloroquine cardiomyopathy.
Andrea Frustaci, Emanuela Morgante, Daniela Antuzzi, Matteo Antonio Russo, Cristina Chimenti

Int J Cardiol· May 2012

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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, Daniela Antuzzi

Biochim Biophys Acta· July 2011

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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, Daniela Antuzzi

Hum Mutat· June 2011

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Early-onset basal cell carcinoma in a case of Ivemark syndrome.
Anna Zampetti, Maria Gnarra, Dennis Linder, Daniela Antuzzi, Luigi Cataldi

Eur J Dermatol· February 2011

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Topical preparations for the treatment of psoriasis: results of a retrospective study over 15 years.
Anna Zampetti, Alessia Barone, Daniela Antuzzi, Paolo Amerio, Antonello Tulli

J Dermatolog Treat· October 2008

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Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman.
Giuseppe Merra, Antonio Dal Lago, Roberta Ricci, Daniela Antuzzi, Giovanni Gasbarrini

Case Rep Gastroenterol· September 2008

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Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance.
Mario Castorina, Donato Rigante, Daniela Antuzzi, Giada Sciascia Cannizzaro, Roberta Ricci

Scand J Gastroenterol· August 2008

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Linear atrophoderma of Moulin.
Anna Zampetti, Daniela Antuzzi, Giacomo Caldarola, Leonardo Celleno, Pierluigi Amerio

Eur J Dermatol· June 2008

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Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele.
Claudia Rendeli, Emanuele Ausili, Mario Castorina, Daniela Antuzzi, Fabrizia Tabacco

Childs Nerv Syst· October 2006

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Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Susanna Lualdi, Stefano Regis, Maja Di Rocco, Fabio Corsolini, Marina Stroppiano, Daniela Antuzzi

Hum Mutat· May 2005

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[Fabry disease in Italy: first epidemiologic and collaborative study].
Roberta Ricci, Mario Castorina, Mariangela Di Lillo, Daniela Antuzzi, Andrea Frustaci

Ann Ital Med Int· March 2005

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Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Michele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, Chiara Balducci, Pirkko Heikinheimo, Daniela Antuzzi

Hum Mutat· March 2005

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Functional assessment of A delta and C fibers in patients with Fabry's disease.
Massimiliano Valeriani, Paolo Mariotti, Domenica Le Pera, Domenico Restuccia, Liala De Armas, Daniela Antuzzi

Muscle Nerve· December 2004

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Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.
Cristina Chimenti, Maurizio Pieroni, Emanuela Morgante, Daniela Antuzzi, Andrea Russo

Circulation· August 2004

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Influence of beta-carotene on lysosomal hydrolases and their natural substrates in major salivary glands of hamsters treated with 7,12-dimethylbenzanthracene (DMBA).
Michele Giuliani, Daniela Antuzzi, Carlo Lajolo, Lorenza Mistura, Roberta Ricci

Comp Biochem Physiol C Toxicol Pharmacol· August 2004

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