Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Roberto Giugliani

Showing results (191-200 of 482) with videos related to

Pageof 49
Sort By:
Biomolecules|July 30, 2020
Precision Medicine for Lysosomal DisordersFilippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, et al.
JIMD Reports|November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VIDenise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
Molecular Genetics and Metabolism Reports|August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry diseaseDaniel G Bichet, Roser Torra, Eric Wallace, et al.
Journal of Clinical Medicine|July 29, 2025
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature ReviewAna Jovanovic, Eve Miller-Hodges, Felicia Castriota, et al.
Journal of the Neurological Sciences|September 16, 2003
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's diseaseIrenio Gomes, Daniel B Nora, Jefferson Becker, et al.
Pediatrics|October 4, 2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reportedGustavo H B Maegawa, Tracy Stockley, Michael Tropak, et al.
Cytotherapy|April 5, 2012
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I miceGuilherme Baldo, Fabiana Quoos Mayer, Barbara Martinelli, et al.
Revista Panamericana De Salud Publica = Pan American Journal of Public Health|May 17, 2019
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the CaribbeanIgnacio Zarante, Paula Hurtado-Villa, Salimah R Walani, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 23, 2006
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletionLeonardo Vedolin, Carolina Fischinger Moura de Souza, Rogério Schwark Silveira, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|September 15, 2011
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)Joe T R Clarke, Roberto Giugliani, Gere Sunder-Plassmann, et al.
Pageof 49

Showing results (191-200 of 482) with videos related to

Sort By:
Pageof 49
Biomolecules|July 30, 2020
Precision Medicine for Lysosomal DisordersFilippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, et al.
JIMD Reports|November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VIDenise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
Molecular Genetics and Metabolism Reports|August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry diseaseDaniel G Bichet, Roser Torra, Eric Wallace, et al.
Journal of Clinical Medicine|July 29, 2025
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature ReviewAna Jovanovic, Eve Miller-Hodges, Felicia Castriota, et al.
Journal of the Neurological Sciences|September 16, 2003
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's diseaseIrenio Gomes, Daniel B Nora, Jefferson Becker, et al.
Pediatrics|October 4, 2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reportedGustavo H B Maegawa, Tracy Stockley, Michael Tropak, et al.
Cytotherapy|April 5, 2012
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I miceGuilherme Baldo, Fabiana Quoos Mayer, Barbara Martinelli, et al.
Revista Panamericana De Salud Publica = Pan American Journal of Public Health|May 17, 2019
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the CaribbeanIgnacio Zarante, Paula Hurtado-Villa, Salimah R Walani, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 23, 2006
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletionLeonardo Vedolin, Carolina Fischinger Moura de Souza, Rogério Schwark Silveira, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|September 15, 2011
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)Joe T R Clarke, Roberto Giugliani, Gere Sunder-Plassmann, et al.
Pageof 49