Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System

by Juan Marcos Mucci, Paula Rozenfeld
Published 2015-01-01

New mutation in Fabry disease: c.448delG, first phenotypic description

by Esteban Calabrese, Guillermo Rodriguez Botta, Paula Rozenfeld
Published 2021-06-01

CRISPR/Cas9 Editing for Gaucher Disease Modelling

by Eleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, Emilio Vaena, Paula Rozenfeld, Andrea Dardis
Published 2020-05-01

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

by Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Published 2020-10-01