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Communications Medicine|May 29, 2026
Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseasesAbdellah Tebani, David Guenet, Stéphanie Torre, et al.
Journal of Clinical Medicine|June 27, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient RegistryDeborah Elstein, Nadia Belmatoug, Bruno Bembi, et al.
Joint Bone Spine|December 31, 2016
Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjectsChristine Serratrice, Nesma Bensalah, Guillaume Penaranda, et al.
Frontiers in Medicine|March 19, 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European SurveyKarolina M Stepien, Beata Kieć-Wilk, Christina Lampe, et al.
Clinical Pharmacokinetics|August 22, 2018
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1Juliette Berger, Marie Vigan, Bruno Pereira, et al.
Journal of Inherited Metabolic Disease|February 10, 2018
Hepatocellular carcinoma in Gaucher disease: an international case seriesMartine Regenboog, Laura van Dussen, Joanne Verheij, et al.
Journal of Inherited Metabolic Disease|March 20, 2025
Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-UpAlberto Nasce, Yann Nguyen, Nadia Belmatoug, et al.
Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.
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