Hasil Pencarian - Brigitte Chabrol

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  1. 1
    Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study

    Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study oleh Laetitia Paermentier, Aline Cano, Brigitte Chabrol, Arnaud Roy

    Diterbitkan 2023-07-01
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  2. 2
    Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center

    Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center oleh Victor Morel, Frédérique Audic, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Shahram Attarian, Karine Nguyen, Karine Nguyen, Emmanuelle Salort-Campana, Emmanuelle Salort-Campana, Martin Krahn, Martin Krahn, Brigitte Chabrol, Brigitte Chabrol, Svetlana Gorokhova, Svetlana Gorokhova

    Diterbitkan 2023-12-01
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  3. 3
    A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

    A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs oleh Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger

    Diterbitkan 2019-12-01
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  4. 4
    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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  5. 5
    Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

    Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy oleh Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

    Diterbitkan 2020-08-01
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  6. 6
    Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

    Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey oleh Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug

    Diterbitkan 2022-02-01
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  7. 7
    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study oleh Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron

    Diterbitkan 2023-07-01
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  8. 8
    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

    Diterbitkan 2024-01-01
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  9. 9
    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

    Diterbitkan 2024-05-01
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  10. 10
    Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

    Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports oleh Marie Hully, Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Elodie Deladriere, Catherine Vanhulle, Jean-Marie Cuisset, Brigitte Chabrol, Claude Cances, Carole Vuillerot, Caroline Espil, Michele Mayer, Marie-Christine Nougues, Pascal Sabouraud, Jeremie Lefranc, Vincent Laugel, Francois Rivier, Ulrike Walther Louvier, Julien Durigneux, Sylvia Napuri, Catherine Sarret, Michel Renouil, Alice Masurel, Marcel-Louis Viallard, Marcel-Louis Viallard, Isabelle Desguerre

    Diterbitkan 2020-02-01
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  11. 11
    Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

    Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three ye... oleh Isabelle Desguerre, Rémi Barrois, Frédérique Audic, Christine Barnerias, Brigitte Chabrol, Jean Baptiste Davion, Julien Durigneux, Caroline Espil-Taris, Marta Gomez-Garcia de la Banda, Marine Guichard, Arnaud Isapof, Marie Christine Nougues, Vincent Laugel, Laure Le Goff, Sandra Mercier, Anne Pervillé, Christian Richelme, Marie Thibaud, Catherine Sarret, Cyril Schweitzer, Hervé Testard, Valérie Trommsdorff, Catherine Vanhulle, Ulrike Walther-Louvier, Cécilia Altuzarra, Mondher Chouchane, Juliette Ropars, Susana Quijano-Roy, Claude Cances

    Diterbitkan 2024-09-01
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  12. 12
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study oleh Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre

    Diterbitkan 2020-06-01
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