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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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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 |