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Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Pediatrics. 2006 Nov;118(5):e1523-9. doi: 10.1542/peds.2005-3161. Epub 2006 Oct 2.
Pediatrics. 2006.
PMID: 17015492
Rapid Improvement after Starting Elexacaftor-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease.
Burgel PR, Durieu I, Chiron R, Ramel S, Danner-Boucher I, Prevotat A, Grenet D, Marguet C, Reynaud-Gaubert M, Macey J, Mely L, Fanton A, Quetant S, Lemonnier L, Paillasseur JL, Da Silva J, Martin C; French Cystic Fibrosis Reference Network Study Group.
Burgel PR, et al.
Am J Respir Crit Care Med. 2021 Jul 1;204(1):64-73. doi: 10.1164/rccm.202011-4153OC.
Am J Respir Crit Care Med. 2021.
PMID: 33600738
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Multisystemic Effects of Elexacaftor-Tezacaftor-Ivacaftor in Adults with Cystic Fibrosis and Advanced Lung Disease.
Burgel PR, Paillasseur JL, Durieu I, Reynaud-Gaubert M, Hamidfar R, Murris-Espin M, Danner-Boucher I, Chiron R, Leroy S, Douvry B, Grenet D, Mely L, Ramel S, Montcouquiol S, Burnet E, Ouaalaya EH, Sogni P, Da Silva J, Martin C; Participating Investigators of the French Cystic Fibrosis Reference Network Study Group.
Burgel PR, et al.
Ann Am Thorac Soc. 2024 Jul;21(7):1053-1064. doi: 10.1513/AnnalsATS.202312-1065OC.
Ann Am Thorac Soc. 2024.
PMID: 38579175
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[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].
Sermet-Gaudelus I, Munck A, Rota M, Roussey M, Feldmann D, Nguyen-Khoa T; Groupe de travail "Dépistage néonatal" de la Fédération des centres de ressources et de compétences de la mucoviscidose.
Sermet-Gaudelus I, et al.
Arch Pediatr. 2010 Sep;17(9):1349-58. doi: 10.1016/j.arcped.2010.06.021. Epub 2010 Aug 16.
Arch Pediatr. 2010.
PMID: 20719482
French.
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