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Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 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 SFTPC, SFTPB, NKX2-1, or ABCA3 genes involved in the s...

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Detalles Bibliográficos
Autores principales:	Rogulska, Justyna, Wróblewska-Seniuk, Katarzyna, Śmigiel, Robert, Szydłowski, Jarosław, Szczapa, Tomasz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140114/ https://www.ncbi.nlm.nih.gov/pubmed/35626240 http://dx.doi.org/10.3390/diagnostics12051084

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