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CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.
Papiris, Spyros A; Louvrier, Camille; Fabre, Aurélie; Kaklamanis, Loukas; Tsangaris, Iraklis; Frantzeskaki, Frantzeska; Dimeas, Ilias E; Debray, Marie-Pierre; Karakontaki, Foteini; Kallieri, Maria; Kolilekas, Lykourgos; Daniil, Zoe; Giatromanolaki, Alexandra; Kannengiesser, Caroline; Borie, Raphael; Nathan, Nadia; Griese, Matthias; Manali, Effrosyni D.
Afiliação
  • Papiris SA; 2nd Pulmonary Department, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Louvrier C; These authors contributed equally to this work.
  • Fabre A; Sorbonne Université, Inserm, Laboratory of Childhood Genetic Disorders, UMR S933, Hôpital Armand-Trousseau, Paris, France.
  • Kaklamanis L; Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand-Trousseau, Paris, France.
  • Tsangaris I; These authors contributed equally to this work.
  • Frantzeskaki F; Department of Pathology, St Vincent's University Hospital, Dublin, Ireland.
  • Dimeas IE; School of Medicine, University College Dublin, Dublin, Ireland.
  • Debray MP; Heart Failure and Transplant Units, Onassis Cardiac Surgery Center, Athens, Greece.
  • Karakontaki F; 2nd Department of Critical Care Medicine, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Kallieri M; 2nd Department of Critical Care Medicine, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Kolilekas L; Department of Respiratory Medicine, Faculty of Medicine, University of Thessaly, Biopolis, Larissa, Greece.
  • Daniil Z; Service de Radiologie, Hôpital Bichat, APHP, Paris, France.
  • Giatromanolaki A; INSERM, Unité 1152, Université de Paris, Paris, France.
  • Kannengiesser C; 1st Respiratory Medicine Department, National and Kapodistrian University of Athens, Medical School, "Sotiria" Chest Hospital, Athens, Greece.
  • Borie R; 2nd Pulmonary Department, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Nathan N; 7th Pulmonary Department, Athens Chest Hospital "Sotiria", Athens, Greece.
  • Griese M; Department of Respiratory Medicine, Faculty of Medicine, University of Thessaly, Biopolis, Larissa, Greece.
  • Manali ED; Department of Pathology, Democritus University of Thrace, University Hospital of Alexandroupolis, Alexandroupolis, Greece.
ERJ Open Res ; 9(6)2023 Nov.
Article em En | MEDLINE | ID: mdl-38111540
ABSTRACT
Genetic analysis pre-lung transplantation diagnosed a case of hereditary pulmonary alveolar proteinosis (PAP) complicated by fibrosis in adulthood. The need for genetic testing in GM-CSF autoantibody negative and unclassifiable PAP is highlighted. https//bit.ly/3QcsYwM.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: ERJ Open Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Grécia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: ERJ Open Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Grécia