A rare late progression form of Sly syndrome mucopolysaccharidosis

by Nathalie Guffon, Roseline Froissart, Alain Fouilhoux
Published 2019-09-01

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

by Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt
Published 2020-06-01

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

by Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
Published 2017-01-01

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

by Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G. Berger
Published 2017-02-01

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

by Christine Serratrice, Jérôme Stirnemann, Amina Berrahal, Nadia Belmatoug, Fabrice Camou, Catherine Caillaud, Thierry Billette de Villemeur, Florence Dalbies, Bérengère Cador, Roseline Froissart, Agathe Masseau, Anaïs Brassier, Bénédicte Hivert, Laure Swiader, Ivan Bertchansky, Claire de Moreuil, Brigitte Chabrol, Isabelle Durieu, Vanessa Leguy Seguin, Leonardo Astudillo, Sébastien Humbert, Samia Pichard, Catherine Marcel, Isabelle Hau Rainsard, Monia Bengherbia, Karima Yousfi, Marc G. Berger
Published 2020-07-01

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

by Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste
Published 2018-07-01