Associated Papers
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 2025
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene.
Wei M et al.
Frontiers in Pediatrics, 2020
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Genetic testing in children with surfactant dysfunction.
Turcu S et al.
Archives of Disease in Childhood, 2013
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
Somaschini M et al.
The Journal of Pediatrics, 2007
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