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Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
Laur, Domitille; Pichard, Samia; Bekri, Soumeya; Caillaud, Catherine; Froissart, Roseline; Levade, Thierry; Roubertie, Agathe; Desguerre, Isabelle; Héron, Bénédicte; Auvin, Stéphane.
Afiliação
  • Laur D; Department of Paediatric Neurology, Hôpital Robert-Debré, AP-HP, Paris, France.
  • Pichard S; Reference Centre for Inborn Errors of Metabolism, Necker Enfants-Malades Hospital, AP-HP, Paris, France.
  • Bekri S; Metabolic Biochemistry Department, Rouen University Hospital, Rouen, France.
  • Caillaud C; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, Rouen, France.
  • Froissart R; Biochemistry, Metabolomic and Proteomic Department, INSERM UMRS 1151, Necker Enfants Malades, Paris, France.
  • Levade T; Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, CHU de Lyon, Bron, France.
  • Roubertie A; Laboratoire de Biochimie Métabolique, CHU de Toulouse, and INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Université Paul Sabatier, Toulouse, France.
  • Desguerre I; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U1298, Montpellier, France.
  • Héron B; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Pediatric Neurology Department, Necker-Enfants-Malades Hospital, AP-HP, Paris, France.
  • Auvin S; Centre de Référence des Maladies Lysosomales, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, APHP, Fédération Hospitalo-Universitaire I2-D2 AP-HP.Sorbonne-Université, Paris, France.
J Inherit Metab Dis ; 46(5): 972-981, 2023 09.
Article em En | MEDLINE | ID: mdl-37381921
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Gangliosidose GM1 Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos / Gangliosidose GM1 Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article