Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00179906%3A_____%2F14%3A10288702" target="_blank" >RIV/00179906:_____/14:10288702 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11150/14:10288702
Result on the web
<a href="http://dx.doi.org/10.1038/jp.2014.132" target="_blank" >http://dx.doi.org/10.1038/jp.2014.132</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/jp.2014.132" target="_blank" >10.1038/jp.2014.132</a>
Alternative languages
Result language
angličtina
Original language name
Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant
Original language description
Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Perinatology
ISSN
0743-8346
e-ISSN
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Volume of the periodical
34
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
951-953
UT code for WoS article
000345486000017
EID of the result in the Scopus database
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