Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Rapid Improvement After Starting Elexacaftor-tezacaftor-ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease
Burgel, Pierre-Régis, Durieu, Isabelle, Chiron, Raphaël, Ramel, Sophie, Danner-Boucher, Isabelle, Prevotat, Anne, Grenet, Dominique, Marguet, Christophe, Reynaud-Gaubert, Martine, Macey, Julie, Mely, Laurent, Fanton, Annlyse, Quetant, Sébastien, Lemonnier, Lydie, Paillasseur, Jean-Louis, Da Silva, Jennifer, Martin, Clémence
Published in American journal of respiratory and critical care medicine (01.07.2021)
Published in American journal of respiratory and critical care medicine (01.07.2021)
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Multisystemic Effects of Elexacaftor-Tezacaftor-Ivacaftor in Adults with Cystic Fibrosis and Advanced Lung Disease
Burgel, Pierre-Régis, Paillasseur, Jean-Louis, Durieu, Isabelle, Reynaud-Gaubert, Martine, Hamidfar, M.D, Rebecca, Murris-Espin, Marlène, Danner-Boucher, Isabelle, Chiron, Raphaël, Leroy, Sylvie, Douvry, Benoit, Grenet, Dominique, Mely, Laurent, Ramel, Sophie, Moncouquiol, Sylvie, Burnet, Espérie, Ouaalaya, El Hassane, Sogni, Philippe, Da Silva, Jennifer, Martin, Clémence
Published in Annals of the American Thoracic Society (01.07.2024)
Published in Annals of the American Thoracic Society (01.07.2024)
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Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Enaud, Laurent, Hadchouel, Alice, Coulomb, Aurore, Berteloot, Laureline, Lacaille, Florence, Boccon-Gibod, Liliane, Boulay, Vincent, Darcel, Françoise, Griese, Matthias, Linard, Mélinée, Louha, Malek, Renouil, Michel, Rivière, Jean-Pierre, Toupance, Bruno, Verkarre, Virginie, Delacourt, Christophe, de Blic, Jacques
Published in Orphanet journal of rare diseases (14.06.2014)
Published in Orphanet journal of rare diseases (14.06.2014)
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