Publications by authors named "Giovanni Ciana"

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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Giovanni Ciana

Int J Mol Sci· May 2021

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and effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo

Mol Genet Metab Rep· December 2020

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Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Francesca Valent, Laura Deroma, Alessandro Moro, Giovanni Ciana, Paolo Martina

Value Health· September 2019

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Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Andrea Dardis, Annalisa Pianta, Stefania Zampieri, Irene Zanin, Marta Bertoli, Giovanni Ciana

Clin Genet· February 2019

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Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri

Orphanet J Rare Dis· August 2017

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Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
Annalisa Sechi, Laura Deroma, Andrea Dardis, Giovanni Ciana, Nicole Bertin

Mol Genet Metab· November 2014

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Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Laura Deroma, Mattia Guerra, Annalisa Sechi, Giovanni Ciana, Giorgia Cisilino

Eur J Pediatr· June 2014

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Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.
Laura Deroma, Annalisa Sechi, Andrea Dardis, Daniela Macor, Giulia Liva, Giovanni Ciana

JIMD Rep· February 2013

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Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.
Giovanni Ciana, Laura Deroma, Anna Martina Franzil, Andrea Dardis, Bruno Bembi

J Inherit Metab Dis· November 2012

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Eye movement impairment recovery in a Gaucher patient treated with miglustat.
Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi

Neurol Res Int· July 2011

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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Bruno Bembi, Federica Edith Pisa, Marco Confalonieri, Giovanni Ciana, Agata Fiumara

J Inherit Metab Dis· December 2010

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.
Paola de Filippi, Sabrina Ravaglia, Bruno Bembi, Alfredo Costa, Arrigo Moglia, Giovanni Ciana

Genet Med· April 2010

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Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Andrea Dardis, Mirella Filocamo, Serena Grossi, Giovanni Ciana, Silvana Franceschetti

Mol Genet Metab· August 2009

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Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.
Stephan Vom Dahl, Ludger Poll, Maja Di Rocco, Giovanni Ciana, Carmencita Denes

Curr Med Res Opin· June 2006

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Generalized arterial calcification of infancy: two siblings with prolonged survival.
Giovanni Ciana, Antonella Trappan, Bruno Bembi, Alessandra Benettoni, Giampaolo Maso

Eur J Pediatr· April 2006

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Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Silvia Dominissini, Roberta Cariati, Marco Nevyjel, Veronica Guerci, Giovanni Ciana

Hum Hered· February 2005

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Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Anna Lisa E Montalvo, Roberta Cariati, Marta Deganuto, Veronica Guerci, Rodolfo Garcia, Giovanni Ciana

Mol Genet Metab· March 2004

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Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Maria Gabriela Pittis, Anna Lisa E Montalvo, Snjezana Miocic, Cristina Martini, Marta Deganuto, Giovanni Ciana

Am J Med Genet A· September 2003

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Mother-to-infant transmission of hepatitis C virus: rate of infection and assessment of viral load and IgM anti-HCV as risk factors.
Gianna Dal Molin, Pierlanfranco D'Agaro, Filippo Ansaldi, Giovanni Ciana, Cristina Fertz

J Med Virol· June 2002

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