Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study by Nathalie Guffon, Delphine Genevaz, Didier Lacombe, Eliane Le Peillet Feuillet, Pascale Bausson, Esther Noel, François Maillot, Nadia Belmatoug, Roland Jaussaud

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Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire by Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain, Olivier Lidove

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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes by Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru

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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. by Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, 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, Didier Lacombe, Hélène Maillard, Olivier Lidove

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