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Cystic Fibrosis New-born Screening in a Portuguese centre – are we complying with European recommendations?

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Bernardo Camacho
Carolina Constant
Luísa Pereira
Celeste Barreto
Palavras-chave:
Fibrose Quística, diagnóstico, Rastreio Neonatal, Recém-Nascido

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Referências

Travert G, Heeley M, Heeley A. History of Newborn Screening for Cystic Fibrosis-The Early Years. Int J Neonatal Screen. 2020;6:8. doi: 10.3390/ijns6010008.

Marcão A, Barreto C, Pereira L, Vaz LG, Cavaco J, Casimiro A, et al. Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies. Int J Neonatal Screen. 2018;4:22. doi: 10.3390/ijns4030022.

Nayir Buyuksahin H, Emiralioglu N, Ozsezen B, Ademhan Tural D, Sunman B, Guzelkas I, et al. Cystic fibrosis newborn screening: Five-year experience from a tertiary care center. Pediatr Pulmonol. 2022;57:403-10. doi: 10.1002/ppul.25778.

Naehrlich L. The Changing Face of Cystic Fibrosis and Its Implications for Screening. Int J Neonatal Screen. 2020;6:54. doi: 10.3390/ijns6030054.

Castellani C, Duff AJ, Bell SC, Heijerman HG, Munck A, Ratjen F, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018;17:153-78. doi: 10.1016/j.jcf.2018.02.006.

Barben J, Castellani C, Dankert-Roelse J, Gartner S, Kashirskaya N, Linnane B, et al. The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe. J Cyst Fibros. 2017;16:207-13. doi: 10.1016/j.jcf.2016.12.012.