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ArticlesPeer ReviewedFull Text
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Author / Creator:Devigili, Grazia ; De Filippo, Michele ; Ciana, Giovanni ; Dardis, Andrea ; Lettieri, Christian ; Rinaldo, Sara ; Macor, Daniela ; Moro, Alessandro ; Eleopra, Roberto ; Bembi, Bruno
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.148-148, Article 148
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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test
Author / Creator:Zampieri, Stefania ; Cattarossi, Silvia ; Pavan, Eleonora ; Barbato, Antonio ; Fiumara, Agata ; Peruzzo, Paolo ; Scarpa, Maurizio ; Ciana, Giovanni ; Dardis, Andrea
Publisher:MDPI
Journal title:International journal of molecular sciences, 2021-05, Vol.22 (11), p.5538
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Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
Author / Creator:Deroma, Laura ; Guerra, Mattia ; Sechi, Annalisa ; Ciana, Giovanni ; Cisilino, Giorgia ; Dardis, Andrea ; Bembi, Bruno
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-06, Vol.173 (6), p.805-813
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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Author / Creator: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
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (6), p.727-735
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Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients
Author / Creator:Ciana, Giovanni ; Deroma, Laura ; Franzil, Anna Martina ; Dardis, Andrea ; Bembi, Bruno
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1101-1106
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Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
Author / Creator:Dahl, Stephan vom ; Poll, Ludger ; Rocco, Maja Di ; Ciana, Giovanni ; Denes, Carmencita ; Mariani, Giuliano ; Maas, Mario
Publisher:England: Informa UK Ltd
Journal title:Current medical research and opinion, 2006-06, Vol.22 (6), p.1045-1064
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Generalized arterial calcification of infancy: two siblings with prolonged survival
Author / Creator:Ciana, Giovanni ; Trappan, Antonella ; Bembi, Bruno ; Benettoni, Alessandra ; Maso, Giampaolo ; Zennaro, Floriana ; Ruf, Nico ; Schnabel, Dirk ; Rutsch, Frank
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2006-04, Vol.165 (4), p.258-263
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Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement: Letter
Author / Creator:Ciana, Giovanni ; Cuttini, Marina ; Bembi, Bruno
Publisher:Boston: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1997-09, Vol.337 (10), p.712
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ArticlesPeer ReviewedFull Text
Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement
Author / Creator:Ciana, Giovanni ; Cuttini, Marina ; Bembi, Bruno
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1997-09, Vol.337 (10), p.712-712
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ArticlesPeer ReviewedFull Text
Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein
Author / Creator:Dominissini, Silvia ; Cariati, Roberta ; Nevyjel, Marco ; Guerci, Veronica ; Ciana, Giovanni ; Bembi, Bruno ; Pittis, Maria Gabriela
Publisher:Basel: S. Karger AG
Journal title:Human heredity, 2004-04, Vol.57 (3), p.138
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ArticlesPeer ReviewedFull Text
Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein
Author / Creator:Dominissini, Silvia ; Cariati, Roberta ; Nevyjel, Marco ; Guerci, Veronica ; Ciana, Giovanni ; Bembi, Bruno ; Pittis, Maria Gabriela
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Human heredity, 2004-01, Vol.57 (3), p.138-141
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Chronic pain in Gaucher disease: skeletal or neuropathic origin?

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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

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Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study

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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

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Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients

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Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients

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Generalized arterial calcification of infancy: two siblings with prolonged survival

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Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement: Letter

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Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement

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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein

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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein

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