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Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant
The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant ev...
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| Publié dans: | BMJ Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7552797/ https://ncbi.nlm.nih.gov/pubmed/33040033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-235520 |
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