1. Açık Erişim@BUU
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Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/29765
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dc.date.accessioned2022-12-08T12:08:39Z-
dc.date.available2022-12-08T12:08:39Z-
dc.date.issued2015-09-23-
dc.identifier.citationKılıç, S. Ş. ve Çekiç, Ş. (2016). "Juvenile idiopathic inflammatory myopathy in a patient with dyskeratosis congenita due to C16orf57 mutation". Journal of Pediatric Hematology/Oncology, 38(2), E75-E77.en_US
dc.identifier.issn1077-4114-
dc.identifier.issn1536-3678-
dc.identifier.urihttps://doi.org/10.1097/MPH.0000000000000455-
dc.identifier.urihttps://journals.lww.com/jpho-online/Fulltext/2016/03000/Juvenile_Idiopathic_Inflammatory_Myopathy_in_a.27.aspx-
dc.identifier.urihttp://hdl.handle.net/11452/29765-
dc.description.abstractDyskeratosis congenita (DC) is a rare inherited disorder characterized by reticular skin pigmentation, oral cavity leukoplakia, and nail dystrophy. A variety of noncutaneous (dental, pulmonary, gastrointestinal, neurological, genitourinary, ophthalmic, and skeletal) abnormalities also have been reported. An 8-year-old boy with DC developed juvenile idiopathic inflammatory myopathy. C16orf57 mutation was identified as a genetic cause of DC. Treatment with methylprednisolone was initiated, followed with methotrexate, prednisolone, and high-dose intravenous immunoglobulin treatment. This is the first report on a patient with juvenile idiopathic inflammatory myopathy and DC.en_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectOncologyen_US
dc.subjectHematologyen_US
dc.subjectPediatricsen_US
dc.subjectDermatomyositisen_US
dc.subjectDyskeratosis congenitalen_US
dc.subjectInflammatory myopathyen_US
dc.subjectImmunodeficiencyen_US
dc.subjectC16orf57 mutationen_US
dc.subject.meshChilden_US
dc.subject.meshDyskeratosis congenitaen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshMyositisen_US
dc.subject.meshPhosphoric diester hydrolasesen_US
dc.titleJuvenile idiopathic inflammatory myopathy in a patient with dyskeratosis congenita due to C16orf57 mutationen_US
dc.typeArticleen_US
dc.identifier.wos000372852700006tr_TR
dc.identifier.scopus2-s2.0-84959460186tr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-9574-1842tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.identifier.startpageE75tr_TR
dc.identifier.endpageE77tr_TR
dc.identifier.volume38tr_TR
dc.identifier.issue2tr_TR
dc.relation.journalJournal of Pediatric Hematology/Oncologyen_US
dc.contributor.buuauthorKılıç, Sara Şebnem-
dc.contributor.buuauthorÇekiç, Şükrü-
dc.contributor.researcheridL-1933-2017tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.identifier.pubmed26535771tr_TR
dc.subject.wosOncologyen_US
dc.subject.wosHematologyen_US
dc.subject.wosPediatricsen_US
dc.indexed.wosSCIEen_US
dc.indexed.scopusScopusen_US
dc.indexed.pubmedPubMeden_US
dc.wos.quartileQ4en_US
dc.contributor.scopusid34975059200tr_TR
dc.contributor.scopusid56117061000tr_TR
dc.subject.scopusDyskeratosis Congenita; Mutation; Telomerase RNAen_US
dc.subject.emtreeImmunoglobulinen_US
dc.subject.emtreeMethotrexateen_US
dc.subject.emtreeMethylprednisoloneen_US
dc.subject.emtreePrednisoloneen_US
dc.subject.emtreePhosphodiesteraseen_US
dc.subject.emtreeUSB1 protein, humanen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChilden_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeDisease durationen_US
dc.subject.emtreeDrug megadoseen_US
dc.subject.emtreeDyskeratosis congenitaen_US
dc.subject.emtreeElectromyogramen_US
dc.subject.emtreeGene identificationen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeHeliotrope rashen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman cellen_US
dc.subject.emtreeJuvenile idiopathic inflammatory myopathyen_US
dc.subject.emtreeLaboratory testen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMuscle fatigueen_US
dc.subject.emtreeMuscle weaknessen_US
dc.subject.emtreeMyositisen_US
dc.subject.emtreeNuclear magnetic resonance imagingen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeRashen_US
dc.subject.emtreeSchool childen_US
dc.subject.emtreeComplicationen_US
dc.subject.emtreeDyskeratosis congenitaen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreeMyositisen_US
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