Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.11851/7122
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Okulu, Emel | - |
dc.contributor.author | Tunç, Gaffari | - |
dc.contributor.author | Erdeve, Ömer | - |
dc.contributor.author | Mumcu, Yelda | - |
dc.contributor.author | Ataşay, Begüm | - |
dc.contributor.author | İnce, Erdal | - |
dc.contributor.author | Arsan, Saadet | - |
dc.date.accessioned | 2021-09-11T15:55:45Z | - |
dc.date.available | 2021-09-11T15:55:45Z | - |
dc.date.issued | 2018 | en_US |
dc.identifier.issn | 0325-0075 | - |
dc.identifier.issn | 1668-3501 | - |
dc.identifier.uri | https://doi.org/10.5546/aap.2018.eng.e609 | - |
dc.identifier.uri | https://hdl.handle.net/20.500.11851/7122 | - |
dc.description.abstract | Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Soc Argentina Pediatria | en_US |
dc.relation.ispartof | Archivos Argentinos De Pediatria | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Infant newborn | en_US |
dc.subject | Netherton syndrome | en_US |
dc.subject | respiratory insufficiency | en_US |
dc.title | Netherton Syndrome: a Neonatal Case With Respiratory Insufficiency | en_US |
dc.type | Other Type of Report | en_US |
dc.department | Faculties, School of Medicine, Department of Internal Medical Sciences | en_US |
dc.department | Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | tr_TR |
dc.identifier.volume | 116 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.startpage | E609 | en_US |
dc.identifier.endpage | E611 | en_US |
dc.authorid | 0000-0002-9114-5293 | - |
dc.authorid | 0000-0002-3193-0812 | - |
dc.identifier.wos | WOS:000439814600027 | en_US |
dc.identifier.scopus | 2-s2.0-85051344202 | en_US |
dc.institutionauthor | Mumcu, Yelda | - |
dc.identifier.pmid | 30016041 | en_US |
dc.identifier.doi | 10.5546/aap.2018.eng.e609 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.scopusquality | Q3 | - |
item.openairetype | Other Type of Report | - |
item.languageiso639-1 | en | - |
item.grantfulltext | open | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
Appears in Collections: | Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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