Orphan disease

Differences of disease phenotypes in individuals with alpha-1-antitrypsin deficiency with genotypes PiZZ and PiSZ - Analysis from the German registry
Sebastian Fähndrich, Nikolas Bernhard, Philipp M. Lepper, Claus Vogelmeier, Robert Bals

European Respiratory Journal Sep 2016, 48 (suppl 60) PA4172; DOI: 10.1183/13993003.congress-2016.PA4172
Inhaled GM-CSF in pulmonary alveolar proteinosis (PAP) patient refractory to plasmapheresis combined with multiple whole lung lavages (WLL)
Francesca Mariani, Ilaria Campo, Elena Paracchini, Davide Piloni, Zamir Kadija, Michele Zorzetto, Annalisa De Silvestri, Carmine Tinelli, Federica Meloni, Maurizio Luisetti

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3876; DOI: 10.1183/13993003.congress-2016.PA3876
Family history of pneumothorax leading to Birt-Hogg-Dubé syndrome diagnosis
Agisilaos Dervas, Dimosthenis Papapetrou, Amerini Dimitrakopoulou, Dimitri Tchernitchko, Caroline Kannengiesser, Raphael Borie, Demosthenes Bouros, Spyros Papiris, Effrosyni Manali

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3879; DOI: 10.1183/13993003.congress-2016.PA3879
Idiopathic plastic bronchitis and relapsing chylothorax
Ina Haasler, Filiz Oezkan, Stephanie Werther, Kaid Darwiche, Helmut Teschler

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3922; DOI: 10.1183/13993003.congress-2016.PA3922
Serum biomarkers as prognostic factors of autoimmune pulmonary alveolar proteinosis after whole lung lavage
Chikatoshi Sugimoto, Toru Arai, Akiko Matsumuro, Masaki Hirose, Youhei Kimura, Shinji Futami, Taro Koba, Shoko Sonobe, Sayoko Tokura, Keiko Nakao, Syojiro Minomo, Tomoko Kagawa, Yasushi Inoue, Yoshikazu Inoue

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3878; DOI: 10.1183/13993003.congress-2016.PA3878
Inhaled sargramostim and whole lung lavage (WLL) as therapy of autoimmune pulmonary alveolar proteinosis (aPAP)
Ilaria Campo, Francesca Mariani, Elena Paracchini, Zamir Kadija, Michele Zorzetto, Carmine Tinelli, Giuseppe Rodi, Federica Meloni, Matthias Griese, Bruce Trapnell, Gerhard Scheuch, Bernhard Muellinger, Maurizio Luisetti

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3870; DOI: 10.1183/13993003.congress-2016.PA3870
Inhaled rhGM-CSF (molgramostim) in the first randomised, double-blind, placebo-controlled, international trial in patients with autoimmune alveolar proteinosis (aPAP)
Francesco Bonella, Yoshikazu Inoue, Inge Tarnow, Cecilia Ganslandt, Mette Vinge, Kim Arvid Nielsen, Cliff Morgan

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3877; DOI: 10.1183/13993003.congress-2016.PA3877
Whole lung lavage therapy (WLL) of pulmonary alveolar proteinosis (PAP): A global survey of current practices and procedures
Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio Iotti, Carmine Tinelli, Giuseppe Rodi, WLL International Study Group

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3871; DOI: 10.1183/13993003.congress-2016.PA3871
Pulmonary function tests for lymphangioleiomyomatosis screening in women with tuberous sclerosis complex
Fabiano Di Marco, Silvia Terraneo, Giuseppina Palumbo, Gianluca Imeri, Francesca La Briola, Silvia Tresoldi, Angela Volpi, Lorenzo Gualandri, Filippo Ghelma, Rosa Maria Alfano, Emanuele Montanari, Alfredo Gorio, Elena Lesma, Angela Peron, Maria Paola Canevini, Stefano Centanni

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3874; DOI: 10.1183/13993003.congress-2016.PA3874
Phenotype heterogeneity in a familial “brain lung thyroid syndrome” related to a novel NKX-2.1 mutation
Nadia Nathan, Raphaël Borie, Sophie Jovien, Diane Doummar, Malek Louha, Julie Beucher, Mélanie Henriat, Estelle Breton, Annick Clement

European Respiratory Journal Sep 2016, 48 (suppl 60) PA3889; DOI: 10.1183/13993003.congress-2016.PA3889

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