Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T – a case report

BACKGROUND: CFTR modulator therapy with ivacaftor is a treatment option for Cystic Fibrosis (CF) patients with at least one copy of a R117H-7T mutation in the CFTR gene. Desirable effects of this therapy are improvement of lung function, decrease in exacerbation rate, normalization or reduction of s...

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Detalles Bibliográficos
Autores principales: Welsner, Matthias, Straßburg, Svenja, Taube, Christian, Sutharsan, Sivagurunathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458608/
https://www.ncbi.nlm.nih.gov/pubmed/30975115
http://dx.doi.org/10.1186/s12890-019-0840-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458608/
https://www.ncbi.nlm.nih.gov/pubmed/30975115
http://dx.doi.org/10.1186/s12890-019-0840-8

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