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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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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Main Authors: Gupta, Naveen Parkash, Batra, Anil, Puri, Ratna, Meena, Varun
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2020
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Acceso en liña: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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