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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

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作者单位: Hop La Pitie Salpetriere, AP HP, Inst Myol, Paris, France [1] CHRU Tours, Ctr Competence Malad Neuromusculaire, Tours, France [2] Univ Hosp Strasbourg, Dept Neurol, Strasbourg, France [3] Hop Univ Necker Enfants Malades, AP HP, Lab Biochim Metabolom & Proteom, Paris, France [4] CHU Grenoble, Clin Neurol, Pole Psychiat Neurol & Reeducat Neurol, F-38000 Grenoble, France [5] Univ Hosp Limoges, Reference Ctr Rare Peripheral Neuropathies, Dept Neurol, Limoges, France [6] Grp Hosp La Rochelle Re Aunis, Serv Neurol, La Rochelle, France [7] CHU St Etienne, Hop Nord, Ctr Reference Malad Neuromusculaires Rares Rhone, St Priest En Jarez [8] Hop Raymond Poincare, AP HP, Pole Ventilat Domicile, F-92380 Garches, France [9] CHU Bordeaux, Serv Reanimat, Bordeaux, France [10] Hosp Civils Lyon, Hop Neurolog Pierre Wertheimer, Serv ENMG & Pathol Neuromusculaires, Lyon, France [11] Hop Hotel Dieu, Ctr Reference Malad Neuromusculaires Nantes Anger, Nantes, France [12] Nimes Univ Hosp, Dept Neurol, 4 Rue Pr Debre, F-30029 Nimes, France [13] CHRU Lille, Ctr Reference Malad Neuromusculaires Lille, Lille, France [14] Hop Arnaud Villeneuve, CHRU Montpellier, Direct Rech & Innovat, Montpellier, France [15] Hosp Civils Lyon, Ctr Biol & Pathol Est, Bron, France [16] Univ Padua, Azienda Osped Padova, Dept Neurosci, Padua, Italy [17] CHRU Montpellier, Clin Motoneurone & Pathol Neuromusculaires, Montpellier, France [18] Hop Univ Paris Ile De France Ouest, Hop Raymond Poincare, Dept Med Imaging, Garches, France [19] Hop Croix Rousse, Ctr Reference Malad Neuromusculaires Reg Rhone, Lyon, France [20] CHU Rennes, Serv Neurol, Rennes, France [21] Hop Archet, Ctr Reference Malad Neuromusculaires, Nice, France [22] CHU Charles Nicolle, Ctr Competence Pathol Neuromusculaire, Rouen, France [23] Hop F Mitterrand, Serv Neurol, 4 Bd Hauterive, F-64046 Pau, France [24] Univ Versailles St Quentin En Yvelines, INSERM, U1179,END ICAP, Equipe Biotherapies Malad Syst [25] CHU Reims, Serv Med Phys & Readaptat, Reims, France [26] Cent Hosp, Dept Neurol, F-54000 Nancy, France [27] CHU Angers, Serv Neurol, Ctr Reference Malad Neuromusculaires Nantes Anger, Angers, France [28] Hop Raymond Poincare, Serv Gen Med, Garches, France [29] GHI Vexin, Serv Soins Suite & Readaptat Neurol, Aincourt, France [30] Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Biochimie & Biol Mol, Bron, France [31] Hop La Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaires Nord Est Il, Paris, France [32] Ctr Reference Malad Hereditaires Metab Nancy, Nancy, France [33] CHU Toulouse Rangueil, Ctr SLA & Malad Neuromusculaires, Toulouse, France [34] CHU Caen, Ctr Competence Malad Neuromusculaires, Caen, France [35] Aix Marseille Univ, Timone Univ Hosp, Reference Ctr Neuromuscular Dis, Marseille, France [36] Hop Porte Madeleine, Serv Med Interne, Orleans, France [37] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, Nerve Muscle Unit,Dept Neurol, Pl Amelie Raba-Leon, F [38] CHRU Cavale Blanche, Blvd Tanguy Prigent, F-29200 Brest, France [39] CHU Raymond Poincare, AP HP, Serv Neurol, Ctr Reference Malad Neuromusculaires Nord Est Ile, 104 Bd [40] Ctr Hosp Lyon Sud, Serv Med Interne, Pierre Benite, France [41] Ctr Hosp Bretagne Atlant, Gen Med, Vannes, France [42]
发布时间 2019-06-06
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Journal of inherited metabolic disease

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