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Bruno Bembi

Showing results (11-20 of 101) with videos related to

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Journal of Inherited Metabolic Disease|March 24, 2012
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patientsGiovanni Ciana, Laura Deroma, Anna Martina Franzil, et al.
Plos One|November 15, 2014
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C diseaseStefania Zampieri, Ezio Bianchi, Carlo Cantile, et al.
Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.
Molecular Genetics and Metabolism Reports|October 18, 2021
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancyAnnalisa Sechi, Alessandro Vit, Claudio Avellini, et al.
European Journal of Pediatrics|January 8, 2014
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal studyLaura Deroma, Mattia Guerra, Annalisa Sechi, et al.
Pharmacoepidemiology and Drug Safety|February 7, 2015
Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patientsMonika Brand, Audrey Muller, Jonathan Alsop, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
JIMD Reports|February 23, 2013
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patientsLaura Deroma, Annalisa Sechi, Andrea Dardis, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 29, 2015
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular modelsErika Malini, Stefania Zampieri, Marta Deganuto, et al.
Pharmacoepidemiology and Drug Safety|June 10, 2009
Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programmeCarla E M Hollak, Derralynn Hughes, Ivo N van Schaik, et al.
Pageof 11

Showing results (11-20 of 101) with videos related to

Sort By:
Pageof 11
Journal of Inherited Metabolic Disease|March 24, 2012
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patientsGiovanni Ciana, Laura Deroma, Anna Martina Franzil, et al.
Plos One|November 15, 2014
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C diseaseStefania Zampieri, Ezio Bianchi, Carlo Cantile, et al.
Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.
Molecular Genetics and Metabolism Reports|October 18, 2021
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancyAnnalisa Sechi, Alessandro Vit, Claudio Avellini, et al.
European Journal of Pediatrics|January 8, 2014
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal studyLaura Deroma, Mattia Guerra, Annalisa Sechi, et al.
Pharmacoepidemiology and Drug Safety|February 7, 2015
Results from a 9-year Intensive Safety Surveillance Scheme (IS(3) ) in miglustat (Zavesca(®) )-treated patientsMonika Brand, Audrey Muller, Jonathan Alsop, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
JIMD Reports|February 23, 2013
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patientsLaura Deroma, Annalisa Sechi, Andrea Dardis, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 29, 2015
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular modelsErika Malini, Stefania Zampieri, Marta Deganuto, et al.
Pharmacoepidemiology and Drug Safety|June 10, 2009
Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programmeCarla E M Hollak, Derralynn Hughes, Ivo N van Schaik, et al.
Pageof 11