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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini, Claudio; Letard, Pascaline; De Antonio, Marie; Taouagh, Nadjib; Perniconi, Barbara; Bouhour, Françoise; Echaniz-Laguna, Andoni; Orlikowski, David; Sacconi, Sabrina; Salort-Campana, Emmanuelle; Solé, Guilhem; Zagnoli, Fabien; Hamroun, Dalil; Froissart, Roseline; Caillaud, Catherine; Laforêt, Pascal.
Afiliação
  • Semplicini C; Department of Neurosciences, University of Padova, Azienda Ospedaliera di Padova, Padova, Italy.
  • Letard P; Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
  • De Antonio M; Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Universitaire Necker Enfants Malades, AP-HP, Paris, France.
  • Taouagh N; Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France.
  • Perniconi B; Institut de Myologie, Hôpital La Pitié-Salpétrière, AP-HP, Paris, France.
  • Bouhour F; Institut de Myologie, Hôpital La Pitié-Salpétrière, AP-HP, Paris, France.
  • Echaniz-Laguna A; Service ENMG et pathologies neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France.
  • Orlikowski D; Department of Neurology, University Hospital Strasbourg, Strasbourg, France.
  • Sacconi S; Pôle de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France.
  • Salort-Campana E; CIC 1429, INSERM, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France.
  • Solé G; Centre de référence des Maladies Neuromusculaires, Hôpital Archet, Nice, France.
  • Zagnoli F; CNRS UMR7277, INSERM U1091, IBV-Institute of Biology Valrose, Faculté de Médecine, UNS Université Nice Sophia-Antipolis, Parc Valrose, Nice Cedex, France.
  • Hamroun D; Reference Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France.
  • Froissart R; Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000, Bordeaux, France.
  • Caillaud C; National reference center 'maladies neuromusculaires du grand sud-ouest,' CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000, Bordeaux, France.
  • Laforêt P; CHRU Cavale-Blanche, boulevard Tanguy-Prigent, 29200, Brest, France.
J Inherit Metab Dis ; 41(6): 937-946, 2018 11.
Article em En | MEDLINE | ID: mdl-30155607
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Predisposição Genética para Doença / Alfa-Glucosidases / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Predisposição Genética para Doença / Alfa-Glucosidases / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article