Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test

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dc.contributor.authorKanmaz, Seda
dc.contributor.authorŞimşek, Erdem
dc.contributor.authorSerin, Hepsen Mine
dc.contributor.authorErdoğan, Murat Kadri
dc.contributor.authorYılmaz, Sanem
dc.contributor.authorAktan, Gül
dc.contributor.authorGökben, Sarenur
dc.date.accessioned2020-12-01T12:36:56Z
dc.date.available2020-12-01T12:36:56Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractHereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.en_US
dc.identifier.doi10.4274/jpr.galenos.2018.60590
dc.identifier.endpage165en_US
dc.identifier.issn2147-9445
dc.identifier.issn2587-2478
dc.identifier.issue2en_US
dc.identifier.startpage163en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.galenos.2018.60590
dc.identifier.urihttps://app.trdizin.gov.tr//makale/TXpZd05qQXpNdz09
dc.identifier.urihttps://hdl.handle.net/11454/67061
dc.identifier.volume6en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofThe Journal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject0-Belirleneceken_US
dc.titleHereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Testen_US
dc.typeArticleen_US

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