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Bruno Bembi

Showing results (21-30 of 101) with videos related to

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Human Heredity|August 7, 2004
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A proteinSilvia Dominissini, Roberta Cariati, Marco Nevyjel, et al.
Plant Molecular Biology|April 12, 2005
Recombinant human acid beta-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblastsSerena Reggi, Stefano Marchetti, Tamara Patti, et al.
The Cochrane Database of Systematic Reviews|March 28, 2015
Enzyme replacement and substrate reduction therapy for Gaucher diseaseElad Shemesh, Laura Deroma, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG|December 24, 2010
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypesStefania Zampieri, Emanuele Buratti, Silvia Dominissini, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe diseaseMitja Jevnikar, Metka Kodric, Fabiana Cantarutti, et al.
Annual Review of Genomics and Human Genetics|September 4, 2014
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of diseaseFrances M Platt, Christopher Wassif, Alexandria Colaco, et al.
Journal of Cellular and Molecular Medicine|September 9, 2008
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneStefania Zampieri, Synthia H Mellon, Terry D Butters, et al.
European Journal of Pediatrics|November 30, 2005
Generalized arterial calcification of infancy: two siblings with prolonged survivalGiovanni Ciana, Antonella Trappan, Bruno Bembi, et al.
Molecular Genetics and Metabolism|August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patientsAnnalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Calcified Tissue International|November 8, 2014
Gaucher disease and bone manifestationsGemma Marcucci, Ari Zimran, Bruno Bembi, et al.
Pageof 11

Showing results (21-30 of 101) with videos related to

Sort By:
Pageof 11
Human Heredity|August 7, 2004
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A proteinSilvia Dominissini, Roberta Cariati, Marco Nevyjel, et al.
Plant Molecular Biology|April 12, 2005
Recombinant human acid beta-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblastsSerena Reggi, Stefano Marchetti, Tamara Patti, et al.
The Cochrane Database of Systematic Reviews|March 28, 2015
Enzyme replacement and substrate reduction therapy for Gaucher diseaseElad Shemesh, Laura Deroma, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG|December 24, 2010
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypesStefania Zampieri, Emanuele Buratti, Silvia Dominissini, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe diseaseMitja Jevnikar, Metka Kodric, Fabiana Cantarutti, et al.
Annual Review of Genomics and Human Genetics|September 4, 2014
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of diseaseFrances M Platt, Christopher Wassif, Alexandria Colaco, et al.
Journal of Cellular and Molecular Medicine|September 9, 2008
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneStefania Zampieri, Synthia H Mellon, Terry D Butters, et al.
European Journal of Pediatrics|November 30, 2005
Generalized arterial calcification of infancy: two siblings with prolonged survivalGiovanni Ciana, Antonella Trappan, Bruno Bembi, et al.
Molecular Genetics and Metabolism|August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patientsAnnalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Calcified Tissue International|November 8, 2014
Gaucher disease and bone manifestationsGemma Marcucci, Ari Zimran, Bruno Bembi, et al.
Pageof 11