Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study.
Fiche publication
Date publication
mai 2023
Journal
European journal of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr HUET Frédéric
Tous les auteurs :
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B
Lien Pubmed
Résumé
Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only few studies reported long-term outcomes.
Mots clés
ERT (Enzyme Replacement Therapy), IOPD (Infantile-onset Pompe disease), Immunomodulation, long-term outcomes
Référence
Eur J Neurol. 2023 05 26;: