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2017 | 1 |
2021 | 1 |
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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27.
J Med Genet. 2017.
PMID: 28954837
Review.
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
The mean (95% confidence interval) absolute increase in the ppFEV(1) was +15.1 (+13.8 to +16.4; P < 0.0001), and the mean (95% confidence interval) in weight was +4.2 kg (+3.9 to +4.6; P < 0.0001). The number of patients requiring long-term oxygen, noninvasive ventil
…The mean (95% confidence interval) absolute increase in the ppFEV(1) was +15.1 (+13.8 to +16.4; P < 0.0001), and the mean (95% confidence
…
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