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| Verfasst von: | Castellani, Carlo [VerfasserIn]  |
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| | Simmonds, Nicholas J. [VerfasserIn] |
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| | Barben, Juerg [VerfasserIn] |
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| | Addy, Charlotte [VerfasserIn] |
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| | Bevan, Amanda [VerfasserIn] |
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| | Burgel, Pierre-Regis [VerfasserIn] |
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| | Drevinek, Pavel [VerfasserIn] |
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| | Gartner, Silvia [VerfasserIn] |
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| | Gramegna, Andrea [VerfasserIn] |
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| | Lammertyn, Elise [VerfasserIn] |
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| | Landau, Eddie C. [VerfasserIn] |
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| | Middleton, Peter G. [VerfasserIn] |
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| | Plant, Barry J. [VerfasserIn] |
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| | Smyth, Alan R. [VerfasserIn] |
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| | Koningsbruggen-Rietschel, Silke van [VerfasserIn] |
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| | Girodon, Emmanuelle [VerfasserIn] |
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| | Kashirskaya, Nataliya [VerfasserIn] |
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| | Munck, Anne [VerfasserIn] |
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| | Nährlich, Lutz [VerfasserIn] |
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| | Raraigh, Karen [VerfasserIn] |
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| | Sermet-Gaudelus, Isabelle [VerfasserIn] |
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| | Sommerburg, Olaf [VerfasserIn] |
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| | Southern, Kevin W. [VerfasserIn] |
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| Titel: | Standards for the care of people with cystic fibrosis (CF) |
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| Titelzusatz: | A timely and accurate diagnosis |
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| Verf.angabe: | Carlo Castellani, Nicholas J. Simmonds, Juerg Barben, Charlotte Addy, Amanda Bevan, Pierre-Regis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie C. Landau, Peter G. Middleton, Barry J. Plant, Alan R. Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nahrlich, Karen Raraigh, Isabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W. Southern |
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| E-Jahr: | 2023 |
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| Jahr: | November 2023 |
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| Umfang: | 6 S. |
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| Fussnoten: | Gesehen am 18.03.2023 ; Online verfügbar: 27 September 2023, Artikel verfügbar: 1 Dezember 2023 |
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| Titel Quelle: | Enthalten in: Journal of cystic fibrosis |
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| Ort Quelle: | Amsterdam [u.a.] : Elsevier Science, 2002 |
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| Jahr Quelle: | 2023 |
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| Band/Heft Quelle: | 22(2023), 6 vom: Nov., Seite 963-968 |
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| ISSN Quelle: | 1873-5010 |
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| Abstract: | 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 characteri-sation 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. |
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| DOI: | doi:10.1016/j.jcf.2023.09.008 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1016/j.jcf.2023.09.008 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S1569199323009128?via%3Dihub |
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| | DOI: https://doi.org/10.1016/j.jcf.2023.09.008 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | CARRIERS |
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| | CFSPID |
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| | CFTR |
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| | CFTR-related disorder |
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| | CRMS/CFSPID |
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| | Cystic fibrosis |
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| | ECFS STANDARDS |
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| | Extended Gene Analysis (EGA) |
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| | INFANTS |
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| | MANAGEMENT |
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| | METABOLIC SYNDROME |
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| | Newborn Bloodspot Screening (NBS) |
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| | PRACTICE GUIDELINES |
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| | RECOMMENDATIONS |
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| | SOCIETY |
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| K10plus-PPN: | 1883718090 |
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| Verknüpfungen: | → Zeitschrift |
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Standards for the care of people with cystic fibrosis (CF) / Castellani, Carlo [VerfasserIn]; November 2023 (Online-Ressource)
