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Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue, Marion; Dufour, Louis; Lenglet, Timothée; Saleille, Lisa; Goizet, Cyril; Ayrignac, Xavier; Ory-Magne, Fabienne; Barth, Magali; Lamari, Foudil; Mandia, Daniele; Caillaud, Catherine; Nadjar, Yann.
Afiliação
  • Masingue M; Reference Center for Neuromuscular Disorders Nord/Est/Île-de-France, Institute of Myology, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Dufour L; Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Lenglet T; Department of Neurophysiology, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Saleille L; Department of Neurology, Reference Center for ALS Rare Disease, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Goizet C; Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Ayrignac X; Reference Center for Rare "Neurogenetic" Diseases, Department of Medical Genetics, Pellegrin Hospital, Bordeaux University Hospital Center, Bordeaux.
  • Ory-Magne F; Rare Diseases Laboratory: Genetics and Metabolism, National Institute of Health and Medical Research U1211, Bordeaux University, Bordeaux.
  • Barth M; Department of Neurology, Reference Center for Adult Leukodystrophies, Montpellier University Hospital Center, National Institute of Health and Medical Research, University of Montpellier, Montpellier.
  • Lamari F; Department of Neurology, University Hospital, National Institute of Health and Medical Research, Brain Imaging and Neurological Disabilities, Mixed Unit of Research 1214, Toulouse.
  • Mandia D; Department of Genetics, Reference Center for Neurogenetic Diseases, University Hospital Angers, Angers.
  • Caillaud C; Biochemistry of Neurometabolic Diseases Functional Units, Department of Metabolic Biochemistry, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
  • Nadjar Y; Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.
Ann Neurol ; 87(4): 609-617, 2020 04.
Article em En | MEDLINE | ID: mdl-31995250
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Sandhoff / Doença de Tay-Sachs Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Sandhoff / Doença de Tay-Sachs Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article