Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Giovanni Ciana"'
Autor:
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100678- (2020)
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase). To date, there is no approved treatment
Externí odkaz:
https://doaj.org/article/c76429547ea544bda01a8f9b7b7c690e
Autor:
Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra, Bruno Bembi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Abstract Backgound Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain
Externí odkaz:
https://doaj.org/article/736390f9517a495cb7aa83f4978ff37e
Publikováno v:
Neurology Research International, Vol 2010 (2010)
In Gaucher Disease (GD) the enzyme (imiglucerase) replacement therapy (ERT) is not able to stop the progression of the neurological involvement, while the substrate reduction therapy (SRT), performed by N-Butyldeoxynojirimycin (miglustat), is an alte
Externí odkaz:
https://doaj.org/article/31d6070e48fc4c8f9abd219486a00679
Autor:
Fabio De Martin, Alessandro Moro, Elisa Michelesio, Francesca Valent, Daniela Macor, Maria Rosalia Da Riol, Laura Deroma, Paolo Martina, Bruno Bembi, Giovanni Ciana
Publikováno v:
Value in Health. 22:1003-1011
Background The lack of epidemiological and clinical data is a major obstacle in health service planning for rare diseases. Patient registries are examples of real-world data that may fill the information gap. Objective We describe the Rare Disease Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fcfa9986718202fd6ca8586fdd6cf0
https://doi.org/10.1016/j.jval.2019.04.1917
https://doi.org/10.1016/j.jval.2019.04.1917
Autor:
Roberto Eleopra, Alessandro Moro, Sara Rinaldo, Daniela Macor, Christian Lettieri, Michele De Filippo, Grazia Devigili, Andrea Dardis, Bruno Bembi, Giovanni Ciana
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Backgound Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment. It has been mainly considered as nociceptive pain secondary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859d05fc711f44fee13f4459c4a2e5f4
http://link.springer.com/article/10.1186/s13023-017-0700-7
http://link.springer.com/article/10.1186/s13023-017-0700-7
Autor:
Elisa Bregant, Andrea Dardis, Stefania Zampieri, Giovanni Ciana, Irene Zanin, Annalisa Pianta, Monica Cazzagon, Marta Bertoli, Bruno Bembi, Giuseppe Damante
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbcea46f6361dac9e4523a8e68be8ce9
http://hdl.handle.net/11390/1200726
http://hdl.handle.net/11390/1200726
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test
Autor:
Antonio Barbato, Eleonora Pavan, Andrea Dardis, Maurizio Scarpa, Silvia Cattarossi, Agata Fiumara, Giovanni Ciana, Stefania Zampieri, Paolo Peruzzo
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 5538, p 5538 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 5538, p 5538 (2021)
Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9593b623566c99f27b15b06e030099
https://doi.org/10.3390/ijms22115538
https://doi.org/10.3390/ijms22115538
Publikováno v:
Journal of Inherited Metabolic Disease. 35:1101-1106
Osteopenia is described as a relevant sign of bone involvement in Gaucher disease (GD) both in pediatric and adult patients. Furthermore, abnormal bone metabolism is considered to play a role in growth and pubertal delay. To analyze the long-term eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d8e161e4a77004ab9d6ab74e2fdf70
https://doi.org/10.1007/s10545-012-9476-z
https://doi.org/10.1007/s10545-012-9476-z
Autor:
Silvia Dominissini, Arnold J. J. Reuser, Maria Gabriela Pittis, M. Di Rocco, M. Donnarumma, Mirella Filocamo, M.A. Donati, Giovanni Ciana, Bruno Bembi, Marina Stroppiano, Alessandra D'Amico, G. Parenti, M. G. Bianco, Camillo Rosano, Marian A. Kroos, Anna Lisa E. Montalvo
Publikováno v:
Human Mutation, 29, E27-E36. Wiley-Liss Inc.
We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes. Among the eight new mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d645908024ca9a9f3a06193609b7243b
https://doi.org/10.1002/humu.20753
https://doi.org/10.1002/humu.20753
Autor:
Giovanni Ciana, Elisabetta Zocconi, Domenico Leonardo Grasso, Flavio Ciarafoni, Veronica Guerci, Giorgio Pelos, Bruno Bembi
Publikováno v:
Audiological Medicine. 4:68-72
Gaucher's disease (GD), the most common lysosomal storage disease, is an autosomal recessive, multi-systemic glycosphingolipid disorder. It is caused by reduced activity of the enzyme glucocerebrosidase, a lysosomal acid β-glucosidase, which results
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef3f9b157aa20261c6a8ac2e90b0d46a
https://doi.org/10.1080/16513860600795218
https://doi.org/10.1080/16513860600795218