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

Robin Lachmann

Showing results (41-50 of 55) with videos related to

Pageof 6
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.
Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
The Lancet. Neurology|January 21, 2023
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trialWolfgang Köhler, Marc Engelen, Florian Eichler, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Blood|November 16, 2013
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, et al.
JIMD Reports|February 23, 2013
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortageGabor E Linthorst, Alessandro P Burlina, Franco Cecchi, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Calcified Tissue International|June 6, 2019
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled PeriodAnthony A Portale, Thomas O Carpenter, Maria Luisa Brandi, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.
Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
The Lancet. Neurology|January 21, 2023
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trialWolfgang Köhler, Marc Engelen, Florian Eichler, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Blood|November 16, 2013
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, et al.
JIMD Reports|February 23, 2013
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortageGabor E Linthorst, Alessandro P Burlina, Franco Cecchi, et al.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Calcified Tissue International|June 6, 2019
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled PeriodAnthony A Portale, Thomas O Carpenter, Maria Luisa Brandi, et al.
Pageof 6