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Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.
Terrier, Benjamin; Colombat, Magali; Beugnet, Caroline; Quéant, Astrid; London, Jonathan; Daudin, Jean-Baptiste; Le Jeunne, Claire; Mouthon, Luc; Monnet, Dominique; Cauquil, Cécile; Lacroix, Catherine; Adams, David; Brézin, Antoine; Valleix, Sophie.
Afiliación
  • Terrier B; Department of Internal Medicine, Referral Center for Systemic and Autoimmune Diseases, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France. benjamin.terrier@aphp.fr.
  • Colombat M; Department of Pathology, Institut Universitaire du Cancer, Toulouse, France.
  • Beugnet C; Université Paris-Descartes, Sorbonne Paris Cité, Faculté de Médecine Paris, AP-HP, Laboratoire de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Paris, France.
  • Quéant A; Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • London J; Department of Internal Medicine, Referral Center for Systemic and Autoimmune Diseases, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Daudin JB; Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Le Jeunne C; Department of Internal Medicine, Referral Center for Systemic and Autoimmune Diseases, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Mouthon L; Department of Internal Medicine, Referral Center for Systemic and Autoimmune Diseases, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Monnet D; Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Cauquil C; Department of Neurology, Referral Center for familial amyloid polyneuropathy (NNERF), Hôpital Bicêtre, AP-HP, Université Paris-Sud, 94270, Le Kremlin-Bicêtre, France.
  • Lacroix C; Department of Neurology, Referral Center for familial amyloid polyneuropathy (NNERF), Hôpital Bicêtre, AP-HP, Université Paris-Sud, 94270, Le Kremlin-Bicêtre, France.
  • Adams D; Department of Neurology, Referral Center for familial amyloid polyneuropathy (NNERF), Hôpital Bicêtre, AP-HP, Université Paris-Sud, 94270, Le Kremlin-Bicêtre, France.
  • Brézin A; Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.
  • Valleix S; Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France. sophie.valleix@aphp.fr.
J Med Case Rep ; 11(1): 222, 2017 Aug 13.
Article en En | MEDLINE | ID: mdl-28802308
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Autónomo / Agudeza Visual / Neuropatías Amiloides Familiares / Enfermedades Gastrointestinales Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Middle aged Idioma: En Revista: J Med Case Rep Año: 2017 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Autónomo / Agudeza Visual / Neuropatías Amiloides Familiares / Enfermedades Gastrointestinales Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Middle aged Idioma: En Revista: J Med Case Rep Año: 2017 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido