Severe lung disease in children with cystic fibrosis missed in newborn screening

Case report: Cystic fibrosis with kwashiorkor: A rare presentation in the era of universal newborn screening

(2023) Annemarie G. Wolfe et al.   Frontiers in Pediatrics

Defining and identifying early‐onset lung disease in cystic fibrosis with cumulative clinical characteristics

(2022) Leslie Huang et al.   PEDIATRIC PULMONOLOGY

Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes

(2022) Margaret Rosenfeld et al.   JAMA Pediatrics

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

(2022) Meghan E. McGarry et al.   PEDIATRIC PULMONOLOGY

Refinement of newborn screening for cystic fibrosis with next generation sequencing

(2022) Michael J. Rock et al.   PEDIATRIC PULMONOLOGY

Variation in cystic fibrosis newborn screening algorithms in the United States

(2022) Maryann R. Rehani et al.   PEDIATRIC PULMONOLOGY

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

(2022) Martin Kharrazi et al.   International Journal of Neonatal Screening

Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs

(2021) Stacey L. Martiniano et al.   MOLECULAR GENETICS AND METABOLISM

Outcomes of infants born during the first 9 years of CF newborn screening in the United States: A retrospective Cystic Fibrosis Foundation Patient Registry cohort study

(2021) Stacey L. Martiniano et al.   PEDIATRIC PULMONOLOGY

Cystic fibrosis newborn screening: the importance of bloodspot sample quality

(2020) Iolo Doull et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?

(2019) Piercarlo Poli et al.   PEDIATRIC PULMONOLOGY

The future of cystic fibrosis care: a global perspective

(2019) Scott C Bell et al.   Lancet Respiratory Medicine

Pulmonary Complications of Cystic Fibrosis

(2019) Bryan Garcia et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

(2017) Patrick R. Sosnay et al.   JOURNAL OF PEDIATRICS

Newborn Screening for Cystic Fibrosis in California

(2015) M. Kharrazi et al.   PEDIATRICS

Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening

(2012) Bradford L. Therrell et al.   MOLECULAR GENETICS AND METABOLISM

Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening

(2011) Michael J. Rock et al.   PEDIATRIC PULMONOLOGY

Lung Disease at Diagnosis in Infants with Cystic Fibrosis Detected by Newborn Screening

(2009) Peter D. Sly et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Clarification of Laboratory and Clinical Variables That Influence Cystic Fibrosis Newborn Screening With Initial Analysis of Immunoreactive Trypsinogen

(2009) M. Kloosterboer et al.   PEDIATRICS

Recovery of Birth Weight z Score Within 2 Years of Diagnosis Is Positively Associated With Pulmonary Status at 6 Years of Age in Children With Cystic Fibrosis

(2009) H. J. Lai et al.   PEDIATRICS