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Bruno Bembi

Showing results (61-70 of 101) with videos related to

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Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Molecular Genetics and Metabolism|November 14, 2017
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism|May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new casesDavid Cassiman, Seymour Packman, Bruno Bembi, et al.
American Journal of Hematology|November 2, 2017
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)Ari Zimran, Nadia Belmatoug, Bruno Bembi, et al.
Minerva Anestesiologica|December 15, 2017
Facing up to limits: a lesson from the Charlie Gard caseAlberto Giannini, Paola Cogo, Bruno Bembi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 MutationsMilena Romanello, Stefania Zampieri, Nadia Bortolotti, et al.
Radiology|November 24, 2005
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testingDavid S Mendelson, Melissa P Wasserstein, Robert J Desnick, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 24, 2012
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA geneSilvia Paciotti, Emanuele Persichetti, Severo Pagliardini, et al.
Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.
Pediatrics|July 16, 2008
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type BMargaret M McGovern, Melissa P Wasserstein, Roberto Giugliani, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Molecular Genetics and Metabolism|November 14, 2017
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism|May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new casesDavid Cassiman, Seymour Packman, Bruno Bembi, et al.
American Journal of Hematology|November 2, 2017
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)Ari Zimran, Nadia Belmatoug, Bruno Bembi, et al.
Minerva Anestesiologica|December 15, 2017
Facing up to limits: a lesson from the Charlie Gard caseAlberto Giannini, Paola Cogo, Bruno Bembi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 MutationsMilena Romanello, Stefania Zampieri, Nadia Bortolotti, et al.
Radiology|November 24, 2005
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testingDavid S Mendelson, Melissa P Wasserstein, Robert J Desnick, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 24, 2012
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA geneSilvia Paciotti, Emanuele Persichetti, Severo Pagliardini, et al.
Journal of Inherited Metabolic Disease|September 15, 2010
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type IIBruno Bembi, Federica Edith Pisa, Marco Confalonieri, et al.
Pediatrics|July 16, 2008
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type BMargaret M McGovern, Melissa P Wasserstein, Roberto Giugliani, et al.
Pageof 11