Hasil Pencarian - Roseline Froissart

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  1. 1
    A rare late progression form of Sly syndrome mucopolysaccharidosis

    A rare late progression form of Sly syndrome mucopolysaccharidosis oleh Nathalie Guffon, Roseline Froissart, Alain Fouilhoux

    Diterbitkan 2019-09-01
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  2. 2
    Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

    Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort oleh Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt

    Diterbitkan 2020-06-01
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  3. 3
    French recommendations for the management of glycogen storage disease type III

    French recommendations for the management of glycogen storage disease type III oleh Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune

    Diterbitkan 2023-07-01
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  4. 4
    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.

    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. oleh 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

    Diterbitkan 2017-01-01
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  5. 5
    A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments oleh 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

    Diterbitkan 2017-02-01
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  6. 6
    Acid sphingomyelinase deficiency in France: a retrospective survival study

    Acid sphingomyelinase deficiency in France: a retrospective survival study oleh Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

    Diterbitkan 2024-08-01
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  7. 7
    Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

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

    Diterbitkan 2018-07-01
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