Associated Papers
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 2025
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN et al.
Cold Spring Harbor Molecular Case Studies, 2020
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U et al.
Human Mutation, 2018
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA et al.
Pediatrics, 2012
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F et al.
Human Molecular Genetics, 2012
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
Ciantelli M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2011
Clinical, radiological and pathological features of ABCA3 mutations in children.
Doan ML et al.
Thorax, 2008
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
Somaschini M et al.
The Journal of Pediatrics, 2007