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

Robin Lachmann

11PUBLICATIONS
66CO-AUTHORS
Gene and molecular therapyMajor global burdens of diseaseCardiology (incl. cardiovascular diseases)Medical molecular engineering of nucleic acids and proteinsMetabolic medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

Sort by Publication Date:
|Mar 10, 2026
Advances in Therapeutics-Enzyme Replacement Therapy: Long-Term Evaluation and New Approaches.

Robin Lachmann

|Feb 16, 2026
Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt

|Feb 06, 2026
Cardiovascular Morbidity and Mortality in Fabry Disease.

Emanuele Monda, Athanasios Bakalakos, Annamaria Del Franco

|Nov 03, 2025
Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease.

Matthew Walton, Nyanar J Deng, Mark Corbett

|Jul 03, 2024
When to suspect inherited metabolic diseases.

Samuel Shribman, Robin H Lachmann

|Apr 25, 2023
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.

Robin H Lachmann, George A Diaz, Melissa P Wasserstein

Pageof 2

Frequent Collaborators

2 joint publications

Maria Luisa Brandi

2 joint publications

Matthew Walton

2 joint publications

Karine Briot

2 joint publications

Annabel Nixon

2 joint publications

Stuart H Ralston

2 joint publications

Martine Cohen-Solal

2 joint publications

Rachel K Crowley

2 joint publications

Elaine Murphy

2 joint publications

Peter Kamenicky

2 joint publications

Muhammad K Javaid

Frequent Collaborators

2 joint publications

Maria Luisa Brandi

2 joint publications

Matthew Walton

2 joint publications

Karine Briot

2 joint publications

Annabel Nixon

Top Related Videos

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

8.6K
See more related videos

Top Related Videos

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

<em>In Vitro</em> Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on : Dec 20, 2017

8.6K
See more related videos