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Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis
C. Castellani, NJ. Simmonds, J. Barben, C. Addy, A. Bevan, PR. Burgel, P. Drevinek, S. Gartner, A. Gramegna, E. Lammertyn, EEC. Landau, PG. Middleton, BJ. Plant, AR. Smyth, S. van Koningsbruggen-Rietschel, E. Girodon, N. Kashirskaya, A. Munck, L....
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
- MeSH
- cystická fibróza * diagnóza genetika terapie MeSH
- lidé MeSH
- novorozenec MeSH
- novorozenecký screening metody MeSH
- protein CFTR genetika MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.
Adult Cystic Fibrosis Centre Royal Brompton Hospital and Imperial College London United Kingdom
Cork Centre for Cystic Fibrosis Cork University Hospital Cork Ireland
Cystic Fibrosis Center IRCCS Istituto Giannina Gaslini Genoa Italy
Cystic Fibrosis Europe Brussels Belgium and the Belgian CF Association Brussels Belgium
Department of Pediatrics Justus Liebig University Giessen Giessen Germany
Department of Women's and Children's Health University of Liverpool Liverpool UK
Hospital Necker Enfants Malades AP HP CF centre Université Paris Descartes Paris France
Hospital Universitari Vall d'Hebron Barcelona Spain
McKusick Nathans Department of Genetic Medicine Johns Hopkins University Baltimore United States
The Graub CF Center Pulmonary Institute Schneider Children's Medical Center Petah Tikva Israel
University Hospital Southampton NHS Foundation Trust Southampton United Kingdom
Citace poskytuje Crossref.org
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