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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin, Wladimir; Benveniste, Olivier; Amelin, Damien; Montagner, Clémence; Lamari, Foudil; Caillaud, Catherine; Douillard, Claire; Dussol, Bertrand; Leguy-Seguin, Vanessa; D'Halluin, Pauline; Noel, Esther; Zenone, Thierry; Matignon, Marie; Maillot, François; Ly, Kim-Heang; Besson, Gérard; Willems, Marjolaine; Labombarda, Fabien; Masseau, Agathe; Lavigne, Christian; Lacombe, Didier; Maillard, Hélène; Lidove, Olivier.
Afiliação
  • Mauhin W; Internal Medicine Department, Reference Center for Lysosomal Storage Disorders, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.
  • Benveniste O; UMRS 974, INSERM, Sorbonne Université, Paris, France.
  • Amelin D; UMRS 974, INSERM, Sorbonne Université, Paris, France.
  • Montagner C; Internal Medicine Department, Pitié Salpêtrière University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Lamari F; UMRS 974, INSERM, Sorbonne Université, Paris, France.
  • Caillaud C; Internal Medicine Department, Reference Center for Lysosomal Storage Disorders, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.
  • Douillard C; Metabolic Biochemistry Department, Pitié Salpêtrière University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Dussol B; Groupe de Recherche Clinique 13 Neurométabolisme, Sorbonne Université, Paris, France.
  • Leguy-Seguin V; Biochemistry, Metabolomic and Proteomic Department, Necker Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
  • D'Halluin P; UMRS 1151, INSERM, Institute Necker Enfants Malades, Paris Descartes University, Paris, France.
  • Noel E; Reference Center for Inborn Metabolic Diseases, Jeanne de Flandres Hospital, Lille, France.
  • Zenone T; Nephrology Department, Assistance Publique Hôpitaux de Marseille, Marseille, France.
  • Matignon M; Centre d'Investigation Clinique 1409, INSERM, Aix Marseille Université, Marseille, France.
  • Maillot F; Internal Medicine and Clinical Immunology Department, Francois Mitterrand Hospital, Dijon, France.
  • Ly KH; Nephrology and Haemodialysis Department, Centre Hospitalier Côte Basque, Bayonne, France.
  • Besson G; Internal Medicine Department, Strasbourg University Hospital, Strasbourg, France.
  • Willems M; Internal Medicine Department, Valence Hospital, Valence, France.
  • Labombarda F; Nephrology and Renal Transplantation Department, Institut Francilien de Recherche en Néphrologie et Transplantation (IFRNT), Henri-Mondor/Albert-Chenevier University Hospital, Assistance Publique Hôpitaux de Paris, Créteil, France.
  • Masseau A; UMRS 955, Institut Mondor de Recherche Biomédicale, INSERM, University of Paris-Est-Créteil, Créteil, France.
  • Lavigne C; Internal Medicine Department, Tours University Hospital, Tours, France.
  • Lacombe D; UMRS 1253, University of Tours, Tours, France.
  • Maillard H; Internal Medicine Department, Dupuytren University Hospital, Limoges, France.
  • Lidove O; Neurology Department, Grenoble University Hospital, Grenoble, France.
PLoS One ; 15(5): e0233460, 2020.
Article em En | MEDLINE | ID: mdl-32442237
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged País/Região como assunto: Europa Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged País/Região como assunto: Europa Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França