1. Barben, J, Castellani, C, Munck, A, et al. Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). J Cyst Fibros. Epub ahead of print 27 November 2020. DOI: 10.1016/j.jcf.2020.11.006.
Google Scholar2. Terlizzi, V, Mergni, G, Centrone, C, et al. Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: is there a risk of increasing sweat chloride over time? Pediatr Pulmonol 2020; 55: 1089–1093.
Google Scholar | Crossref | Medline3. Terlizzi, V, Padoan, R, Claut, L, et al. CRMS/CFSPID subjects carrying D1152H CFTR variant: can the second variant be a predictor of disease development? Diagnostics (Basel) 2020; 10: 1080.
Google Scholar | Crossref4. Terlizzi, V, Claut, L, Tosco, A, et al. A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres. J Cyst Fibros. Epub ahead of print 18 April 2021. DOI: 10.1016/j.jcf.2021.03.015.
Google Scholar5. Castaldo, A, Cimbalo, C, Castaldo, RJ, et al. Cystic fibrosis-screening positive inconclusive diagnosis: newborn screening and long-term follow-up permits to early identify patients with CFTR-related disorders. Diagnostics (Basel) 2020; 10: 570.
Google Scholar | Crossref6. Bombieri, C, Claustres, M, De Boeck, K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10: S86–S102.
Google Scholar | Crossref | Medline7. Johnson, F, Southern, KW, Ulph, F. Psychological impact on parents of an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis: a qualitative study. Int J Neonatal Screen 2019; 5: 23.
Google Scholar | Crossref | Medline8. Sung, V, Hutson, JM. A novel way to diagnose cystic fibrosis in the neonate with a bowel obstruction and possible meconium ileus. J Paediatr Child Health 2003; 39: 720.
Google Scholar | Crossref | Medline