The future of cystic fibrosis care: a global perspective

SC Bell, MA Mall, H Gutierrez, M Macek… - The Lancet …, 2020 - thelancet.com
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

[HTML][HTML] The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery

V Scotet, C L'hostis, C Férec - Genes, 2020 - mdpi.com
Significant advances in the management of cystic fibrosis (CF) in recent decades have
dramatically changed the epidemiology and prognosis of this serious disease, which is no …

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

PM Farrell, BJ Rosenstein, TB White, FJ Accurso… - The Journal of …, 2008 - Elsevier
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is
soon likely to be in use throughout the United States, because early detection permits …

Infection, inflammation, and lung function decline in infants with cystic fibrosis

N Pillarisetti, E Williamson, B Linnane… - American journal of …, 2011 - atsjournals.org
Rationale: Better understanding of evolution of lung function in infants with cystic fibrosis
(CF) and its association with pulmonary inflammation and infection is crucial in informing …

[HTML][HTML] The microbiome in cystic fibrosis pulmonary disease

A Françoise, G Héry-Arnaud - Genes, 2020 - mdpi.com
Cystic fibrosis (CF) is a genetic disease with mutational changes leading to profound
dysbiosis, both pulmonary and intestinal, from a very young age. This dysbiosis plays an …

[HTML][HTML] A survey of newborn screening for cystic fibrosis in Europe

KW Southern, A Munck, R Pollitt, G Travert… - Journal of Cystic …, 2007 - Elsevier
BACKGROUND: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation
of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive …

[HTML][HTML] Newborn Screening for CF across the Globe—Where Is It Worthwhile?

V Scotet, H Gutierrez, PM Farrell - International journal of neonatal …, 2020 - mdpi.com
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for
as long as four decades and has transformed the routine method for diagnosing this genetic …

[HTML][HTML] Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

W Högler, C Langman, H Gomes da Silva… - BMC Musculoskeletal …, 2019 - Springer
Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation (s)
within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a …

Diagnosis of cystic fibrosis in screened populations

PM Farrell, TB White, MS Howenstine, A Munck… - The Journal of …, 2017 - Elsevier
Objective Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening
(NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS …

Detection of disease‐causing CFTR variants in state newborn screening programs

ME McGarry, CL Ren, R Wu, PM Farrell… - Pediatric …, 2023 - Wiley Online Library
Background Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United
State of America and include different cystic fibrosis transmembrane conductance regulator …