Associated Papers
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10
Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.
Xiao GL et al.
World Journal of Pediatrics : Wjp, 2023
Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
Balinotti JE et al.
Pediatric Pulmonology, 2023
ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.
Wang J et al.
Translational Pediatrics, 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
32532878 (PubMed )
Supplement: supp_mcs.a005074_Supplemental_Tables.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
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.
Piersigilli F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Winter J et al.
Klinische Padiatrie, 2014
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
Brasch F et al.
American Journal of Respiratory and Critical Care Medicine, 2006
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