Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned.

Farrell, Philip M; White, Terry B; Derichs, Nico; Castellani, Carlo; Rosenstein, Beryl J

Farrell, Philip M; White, Terry B; Derichs, Nico; Castellani, Carlo; Rosenstein, Beryl J.

Affiliation

Farrell PM; Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI.
White TB; Cystic Fibrosis Foundation, Bethesda, MD.
Derichs N; CFTR Biomarker Center and Translational CF Research Group, CF Center, Pediatric Pulmonology and Immunology , Charité Universitätsmedizin Berlin, Berlin, Germany.
Castellani C; Cystic Fibrosis Center, Ospedale Civile Maggiore, Verona, Italy.
Rosenstein BJ; Department of Pediatrics, Johns Hopkins University, Baltimore, MD.

J Pediatr ; 181S: S16-S26, 2017 Feb.

Article in En | MEDLINE | ID: mdl-28129808

Subject(s)

Cystic Fibrosis/history; Cystic Fibrosis/diagnosis; Cystic Fibrosis/genetics; Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Genetic Testing; History, 20th Century; Humans; Infant, Newborn; Neonatal Screening; Practice Guidelines as Topic

Key words

CF screen positive; CFSPID; CFTR; CFTR-related metabolic syndrome; CRMS; ICD-10; ICM; IRT; immunoreactive trypsinogen; inconclusive diagnosis; intestinal current measurement; nasal potential difference; newborn screening; sweat test

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans / Newborn Language: En Journal: J Pediatr Year: 2017 Type: Article

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