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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C by Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T
Published 2012-06-01
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient by Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, Rodriguez Diana
Published 2012-03-01
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The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients by Stirnemann Jérôme, Vigan Marie, Hamroun Dalil, Heraoui Djazia, Rossi-Semerano Linda, Berger Marc G, Rose Christian, Camou Fabrice, de Roux-Serratrice Christine, Grosbois Bernard, Kaminsky Pierre, Robert Alain, Caillaud Catherine, Froissart Roselyne, Levade Thierry, Masseau Agathe, Mignot Cyril, Sedel Frédéric, Dobbelaere Dries, Vanier Marie T, Valayanopoulos Vassili, Fain Olivier, Fantin Bruno, de Villemeur Thierry, Mentré France, Belmatoug Nadia
Published 2012-10-01
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