A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report

Genetic causes of surfactant protein abnormalities

(2019) Lawrence M. Nogee   CURRENT OPINION IN PEDIATRICS

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes

(2018) Ulrike Schindlbeck et al.   HUMAN MUTATION

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism

(2017) Whitney B. Eldridge et al.   JOURNAL OF PEDIATRICS

Interstitial lung disease in newborns

(2017) Lawrence M. Nogee   Seminars in Fetal & Neonatal Medicine

The biology of the ABCA3 lipid transporter in lung health and disease

(2016) Michael F. Beers et al.   CELL AND TISSUE RESEARCH

Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

(2014) Jennifer A. Wambach et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

(2014) J Malý et al.   Journal of Perinatology

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

(2013) Jean-Pierre Gonçalves et al.   GENE

The Surfactant System Protects Both Fetus and Newborn

(2013) Mikko Hallman   Neonatology

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

(2012) J. A. Wambach et al.   PEDIATRICS

Surfactant Dysfunction

(2011) W. Adam Gower et al.   Paediatric Respiratory Reviews

Incidence and classification of pediatric diffuse parenchymal lung diseases in Germany

(2009) Matthias Griese et al.   Orphanet Journal of Rare Diseases