Search

Your search keyword '"Surfactant deficiency"' showing total 1 results
Start Over Descriptor "Surfactant deficiency" Language slovak
1 results on '"Surfactant deficiency"'

1. Kongenitální deficit surfaktantu v důsledku mutace v genu pro ABCA3 jako příčina fatálního respiračního selhání.

Author

Navrátilová, M., Hornychová, H., Kokštein, Z., and Malý, J.

Subjects
*SURFACE active agents, *RESPIRATORY insufficiency, *GENETIC disorders, *PHYSIOLOGY, *METABOLISM
Abstract

Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure. This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene -- in exon 24 M 1227R and in exon 29 Ins1510fs/ter1519 have never been published yet. [ABSTRACT FROM AUTHOR]

Published
2013

Catalog

Books, media, physical & digital resources
See catalog results