Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by <i>ABCA3</i> Mutation

Surfactant is a complex of phospholipids and proteins produced in type II pneumocytes. Its deficiency frequently occurs in preterm infants and causes respiratory distress syndrome. In full-term newborns, its absence results from mutations in the <i>SFTPC, SFTPB, NKX2-1</i>, or <i>ABCA3</i> genes inv...

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Autori principali:	Justyna Rogulska, Katarzyna Wróblewska-Seniuk, Robert Śmigiel, Jarosław Szydłowski, Tomasz Szczapa
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2022-04-01
Serie:	Diagnostics
Soggetti:	inherited surfactant deficiency neonatal respiratory distress <i>ABCA3</i> gene neonatal respiratory failure congenital surfactant defects
Accesso online:	https://www.mdpi.com/2075-4418/12/5/1084
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