相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis
Anne Munck et al.
JOURNAL OF CYSTIC FIBROSIS (2021)
Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
Sophie Mayer Lacrosniere et al.
GENES (2021)
Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
Giovanni Taccetti et al.
DIAGNOSTICS (2020)
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia
Graham Sinclair et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
ECFS best practice guidelines: the 2018 revision
Carlo Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2018)
The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe
Jurg Barben et al.
JOURNAL OF CYSTIC FIBROSIS (2017)
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
Philip M. Farrell et al.
JOURNAL OF PEDIATRICS (2017)
False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis
J. F. Heidendael et al.
EUROPEAN JOURNAL OF PEDIATRICS (2014)
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Olaf Sommerburg et al.
JOURNAL OF CYSTIC FIBROSIS (2014)
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy
Agnieszka Sobczynska-Tomaszewska et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon
Brent E. Carlyle et al.
JOURNAL OF PEDIATRIC SURGERY (2012)
Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening
Michael J. Rock et al.
PEDIATRIC PULMONOLOGY (2011)
The Need for Vigilance: The Case of a False-Negative Newborn Screen for Cystic Fibrosis
Christina T. Dunn et al.
PEDIATRICS (2011)
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C. Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis
PM Farrell et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2003)
Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth
PM Farrell et al.
PEDIATRICS (2001)
分享论文
