Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test
Zampieri, Stefania, Cattarossi, Silvia, Pavan, Eleonora, Barbato, Antonio, Fiumara, Agata, Peruzzo, Paolo, Scarpa, Maurizio, Ciana, Giovanni, Dardis, Andrea
Published in International journal of molecular sciences (24.05.2021)
Published in International journal of molecular sciences (24.05.2021)
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Journal Article
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Devigili, Grazia, De Filippo, Michele, Ciana, Giovanni, Dardis, Andrea, Lettieri, Christian, Rinaldo, Sara, Macor, Daniela, Moro, Alessandro, Eleopra, Roberto, Bembi, Bruno
Published in Orphanet journal of rare diseases (31.08.2017)
Published in Orphanet journal of rare diseases (31.08.2017)
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Journal Article
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy
Ciana, Giovanni, Dardis, Andrea, Pavan, Eleonora, Da Riol, Rosalia Maria, Biasizzo, Jessica, Ferino, Dania, Zanatta, Manuela, Boni, Antonella, Antonini, Luisa, Crichiutti, Giovanni, Bembi, Bruno
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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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
Dal Molin, Gianna, D'Agaro, Pierlanfranco, Ansaldi, Filippo, Ciana, Giovanni, Fertz, Cristina, Alberico, Salvatore, Campello, Cesare
Published in Journal of medical virology (01.06.2002)
Published in Journal of medical virology (01.06.2002)
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Journal Article
Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat
Accardo, Agostino, Pensiero, Stefano, Ciana, Giovanni, Parentin, Fulvio, Bembi, Bruno
Published in Neurology Research International (01.01.2010)
Published in Neurology Research International (01.01.2010)
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Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene
Dardis, Andrea, Pianta, Annalisa, Zampieri, Stefania, Zanin, Irene, Bertoli, Marta, Cazzagon, Monica, Bregant, Elisa, Damante, Giuseppe, Bembi, Bruno, Ciana, Giovanni
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
Deroma, Laura, Guerra, Mattia, Sechi, Annalisa, Ciana, Giovanni, Cisilino, Giorgia, Dardis, Andrea, Bembi, Bruno
Published in European journal of pediatrics (01.06.2014)
Published in European journal of pediatrics (01.06.2014)
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Journal Article
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Sechi, Annalisa, Deroma, Laura, Dardis, Andrea, Ciana, Giovanni, Bertin, Nicole, Concolino, Daniela, Linari, Silvia, Perria, Chiara, Bembi, Bruno
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
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Lysosomal subnetwork of MetabERN: Objectives and organizational structure
Van der Ploeg, Ans, Parenti, Giancarlo, Germain, Dominique, Huidekoper, Hidde, del Toro, Mireia, Ciana, Giovanni, Roland, Dominique, Lampe, Christina, Scarpa, Maurizio
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Bembi, Bruno, Pisa, Federica Edith, Confalonieri, Marco, Ciana, Giovanni, Fiumara, Agata, Parini, Rossella, Rigoldi, Miriam, Moglia, Arrigo, Costa, Alfredo, Carlucci, Annalisa, Danesino, Cesare, Pittis, Maria Gabriela, Dardis, Andrea, Ravaglia, Sabrina
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia
Valent, Francesca, MD, Deroma, Laura, MD, Moro, Alessandro, MD, Ciana, Giovanni, MD, Martina, Paolo, MSc, De Martin, Fabio, MSc, Michelesio, Elisa, MSc, Da Riol, Maria Rosalia, MD, Macor, Daniela, RN, Bembi, Bruno, MD
Published in Value in health (01.09.2019)
Published in Value in health (01.09.2019)
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Journal Article
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
Ciana, Giovanni, Deroma, Laura, Franzil, Anna Martina, Dardis, Andrea, Bembi, Bruno
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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Journal Article
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
Dahl, Stephan vom, Poll, Ludger, Rocco, Maja Di, Ciana, Giovanni, Denes, Carmencita, Mariani, Giuliano, Maas, Mario
Published in Current medical research and opinion (01.06.2006)
Published in Current medical research and opinion (01.06.2006)
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Journal Article
Clinical follow-up in a group of Gaucher type I patients switching enzyme replacement therapy from imiglucerase to velaglucerase
Bembi, Bruno, Sechi, Annalisa, Dardis, Andrea, Deroma, Laura, Macor, Daniela, Liva, Giulia, Ciana, Giovanni
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
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Journal Article
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme
Dardis, Andrea, Filocamo, Mirella, Grossi, Serena, Ciana, Giovanni, Franceschetti, Silvana, Dominissini, Silvia, Rubboli, Guido, Di Rocco, Maya, Bembi, Bruno
Published in Molecular genetics and metabolism (01.08.2009)
Published in Molecular genetics and metabolism (01.08.2009)
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Journal Article
Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
Deroma, Laura, Sechi, Annalisa, Dardis, Andrea, Macor, Daniela, Liva, Giulia, Ciana, Giovanni, Bembi, Bruno
Published in JIMD Reports - Case and Research Reports, 2012/4 (01.01.2013)
Published in JIMD Reports - Case and Research Reports, 2012/4 (01.01.2013)
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Book Chapter
Journal Article
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
de Filippi, Paola, Ravaglia, Sabrina, Bembi, Bruno, Costa, Alfredo, Moglia, Arrigo, Piccolo, Giovanni, Repetto, Alessandra, Dardis, Andrea, Greco, Giuseppe, Ciana, Giovanni, Canevari, Francesco, Danesino, Cesare
Published in Genetics in medicine (01.04.2010)
Published in Genetics in medicine (01.04.2010)
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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
Published in JIMD Reports, Volume 23 (2015)
Published in JIMD Reports, Volume 23 (2015)
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Book Chapter
Journal Article
Generalized arterial calcification of infancy : two siblings with prolonged survival
CIANA, Giovanni, TRAPPAN, Antonella, BEMBI, Bruno, BENETTONI, Alessandra, MASO, Giampaolo, ZENNARO, Floriana, RUF, Nico, SCHNABEL, Dirk, RUTSCH, Frank
Published in European journal of pediatrics (01.04.2006)
Published in European journal of pediatrics (01.04.2006)
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Journal Article
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the b- glucosidase enzyme
Dardis, Andrea, Filocamo, Mirella, Grossi, Serena, Ciana, Giovanni, Franceschetti, Silvana, Dominissini, Silvia, Rubboli, Guido, Di Rocco, Maya, Bembi, Bruno
Published in Molecular genetics and metabolism (01.08.2009)
Published in Molecular genetics and metabolism (01.08.2009)
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