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Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel, Amélie; Kraoua, Ichraf; Marcelino, Chloé; Khrouf, Walid; Schlemmer, Dimitri; Ganne, Benjamin; Caillaud, Catherine; Fernández-Eulate, Gorka; Turki, Ilhem Ben Youssef; Dauriat, Benjamin; Bonnefont-Rousselot, Dominique; Nadjar, Yann; Lamari, Foudil.
Afiliación
  • Blondel A; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.
  • Kraoua I; University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Neurology Department, LR18SP04, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.
  • Marcelino C; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.
  • Khrouf W; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.
  • Schlemmer D; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France.
  • Ganne B; Cytogenetic and Medical Genetic Department, Hôpital de la mère et de l'enfant, 87042 Limoges, France.
  • Caillaud C; Biochemistry, Metabolomics, and Proteomics Department, Necker Enfants Malades University Hospital, AP-HP, Center-Paris University, 75015 Paris, France.
  • Fernández-Eulate G; Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, 75013 Paris, France; Institut Necker-Enfants Malades, INSERM U1151, BioSPC (ED562), Université Paris Cité, Paris, France.
  • Turki IBY; University of Tunis El Manar, Faculty of Medicine of Tunis, Tunis, Tunisia; Neurology Department, LR18SP04, National Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.
  • Dauriat B; Cytogenetic and Medical Genetic Department, Hôpital de la mère et de l'enfant, 87042 Limoges, France.
  • Bonnefont-Rousselot D; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France; Paris University, UTCBS, U 1022 Inserm, UMR 88 CNRS, Paris, France.
  • Nadjar Y; Neurology Department, Reference Center for Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, 75013 Paris, France.
  • Lamari F; Metabolic Biochemistry Department, Neurometabolic unit, DMU Biogem, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, 75013 Paris, France. Electronic address: foudil.lamari@aphp.fr.
Mol Genet Metab ; 138(2): 106983, 2023 02.
Article en En | MEDLINE | ID: mdl-36709536
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Sandhoff / Enfermedad de Tay-Sachs / Gangliosidosis GM2 Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Sandhoff / Enfermedad de Tay-Sachs / Gangliosidosis GM2 Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos