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 (151-160 of 482) with videos related to

Pageof 49
Sort By:
European Journal of Pediatrics|January 12, 2012
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I RegistryKristin D'Aco, Lisa Underhill, Lakshmi Rangachari, et al.
Journal of Inherited Metabolic Disease|August 13, 2014
Look carefully to the heels! A potentially treatable cause of spastic paraplegiaJonas Alex Saute, Roberto Giugliani, Louise S Merkens, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)Bénédicte Héron, Spyros Batzios, Eugen Mengel, et al.
Journal of Inherited Metabolic Disease|November 21, 2024
Development of a novel tool for individual treatment trials in mucopolysaccharidosisAnna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Community Genetics|March 24, 2007
Cancer genetic counseling in public health care hospitals: the experience of three Brazilian servicesEdenir Inez Palmero, Luciane Kalakun, Lavinia Schüler-Faccini, et al.
Clinical Biochemistry|March 21, 2007
Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agentFernanda Timm Seabra Souza, Luana Souza Sostruznik, Roberta Casagrande Scolari, et al.
Frontiers in Genetics|December 26, 2022
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin AmericaRoberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, et al.
International Journal of Experimental Pathology|June 22, 2013
Characterization of joint disease in mucopolysaccharidosis type I micePatricia G de Oliveira, Guilherme Baldo, Fabiana Q Mayer, et al.
Life Sciences|January 26, 2018
Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I miceEsteban Alberto Gonzalez, Giselle Renata Martins, Angela Maria Vicente Tavares, et al.
Biotechnology Letters|January 19, 2018
A simple protocol for transfecting human mesenchymal stem cellsTalita Giacomet de Carvalho, Felipe Matheus Pellenz, Alvaro Laureano, et al.
Pageof 49

Showing results (151-160 of 482) with videos related to

Sort By:
Pageof 49
European Journal of Pediatrics|January 12, 2012
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I RegistryKristin D'Aco, Lisa Underhill, Lakshmi Rangachari, et al.
Journal of Inherited Metabolic Disease|August 13, 2014
Look carefully to the heels! A potentially treatable cause of spastic paraplegiaJonas Alex Saute, Roberto Giugliani, Louise S Merkens, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)Bénédicte Héron, Spyros Batzios, Eugen Mengel, et al.
Journal of Inherited Metabolic Disease|November 21, 2024
Development of a novel tool for individual treatment trials in mucopolysaccharidosisAnna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, et al.
Community Genetics|March 24, 2007
Cancer genetic counseling in public health care hospitals: the experience of three Brazilian servicesEdenir Inez Palmero, Luciane Kalakun, Lavinia Schüler-Faccini, et al.
Clinical Biochemistry|March 21, 2007
Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agentFernanda Timm Seabra Souza, Luana Souza Sostruznik, Roberta Casagrande Scolari, et al.
Frontiers in Genetics|December 26, 2022
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin AmericaRoberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, et al.
International Journal of Experimental Pathology|June 22, 2013
Characterization of joint disease in mucopolysaccharidosis type I micePatricia G de Oliveira, Guilherme Baldo, Fabiana Q Mayer, et al.
Life Sciences|January 26, 2018
Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I miceEsteban Alberto Gonzalez, Giselle Renata Martins, Angela Maria Vicente Tavares, et al.
Biotechnology Letters|January 19, 2018
A simple protocol for transfecting human mesenchymal stem cellsTalita Giacomet de Carvalho, Felipe Matheus Pellenz, Alvaro Laureano, et al.
Pageof 49