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收藏PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Level, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, Laurence 分享 收藏 分享 收藏 分享 收藏 Gangliosidoses: Understanding disease evolution in GM1 and GM2Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Hahn, Andreas; Patterson, Marc; Bourchany, Aurelie; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez 分享 收藏 Characterization of patients with mucopolysaccharidosis type VII (MPS VII) in the disease monitoring program (DMP)Grant, Christina L.; Wang, Raymond Y.; Giugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara K.; Portmann, Monica Penon; Oussoren, Esmeralda; Martins, Esmeralda E.; Durand, Consuelo; Chabrol, Brigitte; Hetzer, Joel; Cohen, Jeanne M.; Marsden, Deborah; Merrittii, J. Lawrence 分享 收藏 Application of a natural history study on an investigational drug clinical developmentGiugliani, Roberto; Valle, Daniel A. D.; Heron, Benedicte; Harmatz, Paul; Hahn, Andreas; Horovitz, Dafne D. G.; Patterson, Marc; Bourchany, Aurelie; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez 分享 收藏 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 treatmentDesguerre, Isabelle; Barrois, Remi; Audic, Frederique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; de la Banda, Marta Gomez-Garcia; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Perville, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Herve; Trommsdorff, Valerie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cecilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude 分享 收藏 Inferring disease course from differential exon usage in the wide titinopathy spectrumDi Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco 分享 收藏 Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyRotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel 分享 收藏 Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programGiugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B.; Chabrol, Brigitte; Grant, Christina L.; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt II, J. Lawrence 分享 收藏 Early clinical response and continued safety with vestronidase ALFA for the treatment of mucopolysaccharidosis VII (MPS VII)Burton, Barbara; Giugliani, Roberto; Gonzalez-Meneses, Antonio; Grant, Christina Lee; Scarpa, Maurizio; Sun, Angela; Wang, Raymond; Van der Ploeg, Ans; Martins, Esmeralda; Durand, Consuelo; Chabrol, Brigitte; Hetzer, Joel; Malkus, Betsy; Cohen, Jeanne; Marsden, Deborah; Merritt, J. Lawrence, II 分享 收藏 A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical dataGiugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Meyer, Elisa; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏 A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessmentsGiugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏 A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessmentsGiugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Carp, Nicoleta; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏 Performance measures and patient/caregiver-reported assessments collected in a longitudinal, multi-center disease monitoring program (DMP) of patients with mucopolysaccharidosis type VII (MPS VII)Malkus, Betsy C.; Cohen, Jeanne M.; Grant, Christina L.; Scarpa, Maurizio; Sun, Angela; Wang, Raymond Y.; Burton, Barbara K.; Oussoren, Esmeralda; Martins, Esmeralda E.; Durand, Consuelo; Chabrol, Brigitte; Ortiz, Lionel; Hetzer, Joel; Marsden, Deborah; Merritt, J. Lawrence, II; Giugliani, Roberto; Gonzalez-Meneses, Antonio 分享 收藏 Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multi-center disease monitoring program (DMP)Giugliani, Roberto; Grant, Christina L.; Scarpa, Maurizio; Sun, Angela; Wang, Raymond Y.; Burton, Barbara K.; Oussoren, Esmeralda; Durand, Consuelo; Martins, Esmeralda E.; Chabrol, Brigitte; Hetzer, Joel; Marsden, Deborah; Merritt, J. Lawrence, II; Gonzalez-Meneses, Antonio 分享 收藏 Individual and Family Determinants for Quality of Life in Parents of Children With Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach EDITORIAL COMMENTOuattara, Abdoulaye; Resseguier, Noemie; Cano, Aline; de Lonlay, Pascale; Arnoux, Jean-Baptiste; Brassier, Anais; Schiff, Manuel; Pichard, Samia; Fabre, Alexandre; Hoebeke, Celia; Guffon, Nathalie; Fouilhoux, Alain; Broue, Pierre; Touati, Guy; Dobbelaere, Dries; Mention, Karine; Labarthe, Francois; Tardieu, Marine; de Parscau, Loic; Feillet, Francois; Bonnemains, Chrystele; Kuster, Alice; Labrune, Philippe; Barth, Magalie; Damaj, Lena; Lamireau, Delphine; Berbis, Julie; Auquier, Pascal; Chabrol, Brigitte 分享 收藏 Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesAngelini, Chloe; Durand, Christelle Marie; Fergelot, Patricia; Deforges, Julie; Vital, Anne; Menegon, Patrice; Sarrazin, Elizabeth; Bellance, Remi; Mathis, Stephane; Gonzalez, Victoria; Renaud, Mathilde; Frismand, Solene; Schmitt, Emmanuelle; Rouanet, Marie; Burglen, Lydie; Chabrol, Brigitte; Desnous, Beatrice; Arveiler, Benoit; Stevanin, Giovanni; Coupry, Isabelle; Goizet, Cyril 分享 收藏 Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective studyFreihuber, Cecile; Dahmani-Rabehi, Bahia; Brassier, Anais; Broue, Pierre; Cances, Claude; Chabrol, Brigitte; Eyer, Didier; Labarthe, Francois; Latour, Philippe; Levade, Thierry; Pichard, Samia; Sevin, Caroline; Vanier, Marie T.; Heron, Benedicte 分享 收藏 
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