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Surfactant deficiency syndrome in an infant with a C‐terminal frame shift in ABCA3: A case report

Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease. ABCA3 transports phospholipids into the lamellar bodies of type II alveolar cells, a critical step in alveolar surfactant production. We report a term inf...

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Detalles Bibliográficos
Autores principales: Akil, Nour, Fischer, Anthony J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947115/
https://www.ncbi.nlm.nih.gov/pubmed/29566461
http://dx.doi.org/10.1002/ppul.23994