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Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age

  • Published:2023-12-06 Issue: Volume: Page:
  • ISSN:1432-1076
  • Container-title:European Journal of Pediatrics
  • language:en
  • Short-container-title:Eur J Pediatr

Author:

Fevola C.,Dolce D.,Tosco A.,Padoan R.,Daccò V.,Claut L.,Schgor T.,Sepe A.,Timpano S.,Fabrizzi B.,Piccinini P.,Taccetti G.,Bonomi P.,Terlizzi V.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference44 articles.

1. Southern KW, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, Castellani C; ECFS CF Neonatal Screening Working Group (2007) A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 6:57–65. https://doi.org/10.1016/j.jcf.2006.05.008

2. Massie RJ, Curnow L, Glazner J, Armstrong DS, Francis I (2012) Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 196:67–70. https://doi.org/10.5694/mja11.10686

3. Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O’Sullivan BP, Spencer T, Yee W, Comeau AM (2010) Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. J Inherit Metab Dis 33:S255–S261. https://doi.org/10.1007/s10545-010-9117-3

4. Fibrosis C, Foundation; Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, et al (2009) Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 155:S106–S116. https://doi.org/10.1016/j.jpeds.2009.09.003

5. Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R, Barben J, Southern KW; ECFS Neonatal Screening Working Group (2015) Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 14:706–713. https://doi.org/10.1016/j.jcf.2015.01.001

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