Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Philip M. Farrell, Terry B. White, Clement L. Ren et al. · The Journal of Pediatrics · 2017 · 897 citations · Full text

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis

Chee Y. Ooi, Ruslan Dorfman, Marco Cipolli et al. · Gastroenterology · 2010 · 246 citations · Full text

Fibrosis, Gastroenterology, Pathology +2

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

Drucy Borowitz, Richard B. Parad, Jack Sharp et al. · The Journal of Pediatrics · 2009 · 210 citations · Full text

Neonatology, First Two, Physiology +5

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

À. Munck, Sarah Mayell, V. Winters et al. · Journal of Cystic Fibrosis · 2015 · 173 citations

Early Diagnosis, Newborn Screening, Pediatrics +6