Chanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorder

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dc.authoridGül, Mehmet/0000-0002-1374-0783
dc.authoridEşrefoğlu, Mukaddes/0000-0003-3380-1480
dc.authorwosidGül, Mehmet/ABI-6336-2020
dc.authorwosidEşrefoğlu, Mukaddes/JWA-4590-2024
dc.contributor.authorSelimoglu, Mukadder Ayse
dc.contributor.authorEsrefoglu, Mukaddes
dc.contributor.authorGul, Mehmet
dc.contributor.authorGungor, Serdal
dc.contributor.authorYildirim, Cigdem
dc.contributor.authorSeyhan, Muammer
dc.date.accessioned2024-08-04T20:31:08Z
dc.date.available2024-08-04T20:31:08Z
dc.date.issued2009
dc.departmentİnönü Üniversitesien_US
dc.description.abstractChanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.en_US
dc.identifier.doi10.1111/j.1525-1470.2008.00818.x
dc.identifier.endpage43en_US
dc.identifier.issn0736-8046
dc.identifier.issue1en_US
dc.identifier.pmid19250403en_US
dc.identifier.scopus2-s2.0-60449093396en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage40en_US
dc.identifier.urihttps://doi.org/10.1111/j.1525-1470.2008.00818.x
dc.identifier.urihttps://hdl.handle.net/11616/94753
dc.identifier.volume26en_US
dc.identifier.wosWOS:000263466400007en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWiley-Blackwell Publishing, Incen_US
dc.relation.ispartofPediatric Dermatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectStorage Diseaseen_US
dc.subjectFatty Liveren_US
dc.subjectIchthyosisen_US
dc.subjectMoleculesen_US
dc.subjectAdhesionen_US
dc.titleChanarin-Dorfman Syndrome: Clinical Features of a Rare Lipid Metabolism Disorderen_US
dc.typeArticleen_US

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