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Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea, Camelia; Gonzalez Rodriguez, Elena; Beigelman-Aubry, Catherine; Leroy, Victor; Aubry-Rozier, Bérengère; Campos-Xavier, Belinda; Ballhausen, Diana; Lazor, Romain; Barbey, Frédéric; Bonafé, Luisa; Superti-Furga, Andrea; Tran, Christel.
Afiliação
  • Voinea C; Respiratory Medicine Department, Lausanne University Hospital, Lausanne, Switzerland.
  • Gonzalez Rodriguez E; Service of Endocrinology, Diabetes and Metabolism, Internal Medicine Department, Lausanne University Hospital, Lausanne, Switzerland.
  • Beigelman-Aubry C; Department of Radiodiagnostic and Interventional Radiology, Lausanne University Hospital, Lausanne, Switzerland.
  • Leroy V; Leenaards Memory Centre, Clinical Neuroscience Department, Lausanne University Hospital, Lausanne, Switzerland.
  • Aubry-Rozier B; Service of Endocrinology, Diabetes and Metabolism, Internal Medicine Department, Lausanne University Hospital, Lausanne, Switzerland.
  • Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland.
  • Ballhausen D; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland.
  • Lazor R; Respiratory Medicine Department, Lausanne University Hospital, Lausanne, Switzerland.
  • Barbey F; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland.
  • Bonafé L; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland.
  • Tran C; Division of Genetic Medicine, Lausanne University Hospital, Center for Molecular Diseases, Lausanne, Switzerland. christel.tran@chuv.ch.
J Bone Miner Metab ; 37(2): 378-383, 2019 Mar.
Article em En | MEDLINE | ID: mdl-29948344

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteíte Deformante / Esplenomegalia / Osso e Ossos / Doença de Niemann-Pick Tipo B / Demência Frontotemporal / Proteína Sequestossoma-1 / Hepatomegalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteíte Deformante / Esplenomegalia / Osso e Ossos / Doença de Niemann-Pick Tipo B / Demência Frontotemporal / Proteína Sequestossoma-1 / Hepatomegalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article